F8 ELISA Kit for Human(Homo sapiens) | EIAab.comF8 ELISA Kit for Human(Homo sapiens)

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Index > Protein center > F8(Gene name) > Human

F8 (Gene name),

Coagulation factor VIII (Protein name ), FA8_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

F8(F8C);

Protein name:

Coagulation factor VIII;

Alternative:

Procoagulant component;Antihemophilic factor(AHF);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with vWF. vWF binding is essential for the stabilization of F8 in circulation.

Function:

Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts factor X to the activated form, factor Xa.

Subcellular Location:

Secreted extracellular space

Protein Attributes:

Sequence length:

2351

Sequence:

50:

100:

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1150:

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1350:

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1750:

1800:

1850:

1900:

1950:

2000:

2050:

2100:

2150:

2200:

2250:

2300:

2350:

2351:

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

String:

P00451

UniGene:

Hs.654450

SMR:

P00451

KEGG:

hsa:2157

MIM:

134500

STRING:

9606.ENSP00000353393

UniGene:

Hs.632836

Pfam:

PF00394

Uniprot:

P00451

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ELISA Kit for Human Coagulation factor VIII

Cat.:

E0841h

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96T

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ELISA Kit for Human Coagulation factor VIII

Cat.:

E0841p

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96T

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ELISA Kit for Human Coagulation factor VIII

Cat.:

E0841m

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96T

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ELISA Kit for Human Coagulation factor VIII

Cat.:

E0841d

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96T

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CLIA Kit for Human Coagulation factor VIII

Cat.:

U0841p

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96T

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CLIA Kit for Human Coagulation factor VIII

Cat.:

U0841h

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Packing:

96T

CLIA Kit for Human Coagulation factor VIII

Cat.:

U0841d

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96T

CLIA Kit for Human Coagulation factor VIII

Cat.:

U0841m

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96T

Polyclonal Antibody for Human Coagulation factor VIII

Cat.:

P0841Rb-m

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Coagulation factor VIII

Cat.:

P0841Rb-h

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Coagulation factor VIII

Protein for Human Coagulation factor VIII

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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References

1.

"Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data."
Ivaskevicius V. , Jurgutis R. , Rost S. , Muller A. , Schmitt C. , Wulff K. , Herrmann F.H. , Muller C.R. , Schwaab R. , Oldenburg J.
Br. J. Haematol.112:1062-1070(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA VAL-255; GLU-323; CYS-391; CYS-550; VAL-586; CYS-1708; CYS-1800; ALA-1942; PRO-1963; CYS-2036; CYS-2124; ARG-2172; CYS-2182; GLN-2228 AND ALA-2307
2.

"Site and type of mutations in the factor VIII gene in patients and carriers of haemophilia A."
Theophilus B.D.M. , Enayat M.S. , Williams M.D. , Hill F.G.H.
Haemophilia7:381-391(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ASP-132; LYS-141; GLU-466; THR-470; HIS-503; GLY-602; THR-1853; GLN-1985; ARG-2004; TRP-2016; TYR-2093; HIS-2169; HIS-2182; VAL-2198 AND GLN-2228
3.

"Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation."
Bauduer F. , Ducout L. , Bendriss P. , Falaises B. , Lavergne J.-M.
Haemophilia7:419-421(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA ALA-92
4.

"Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations."
Timur A.A. , Guergey A. , Aktuglu G. , Kavakli K. , Canatan D. , Olek K. , Caglayan S.H.
Haemophilia7:475-481(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ASN-67; PHE-117; ALA-137; TYR-267; CYS-301; HIS-301; TYR-348; LYS-475; ALA-579; CYS-612; CYS-683; LEU-698; TRP-710; CYS-1708; HIS-1788; LEU-1876; TRP-2016; GLU-2045; CYS-2178; CYS-2182; HIS-2182; PRO-2182; ALA-2307 AND LEU-2323
5.

"Seven novel and four recurrent point mutations in the factor VIII (F8C) gene."
Bogdanova N. , Lemcke B. , Markoff A. , Pollmann H. , Dworniczak B. , Eigel A. , Horst J.
Hum. Mutat.18:546-546(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA MET-181; THR-339; CYS-455; TRP-546; CYS-554; CYS-2178 AND PRO-2326
6.

"Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations."
Vidal F. , Farssac E. , Altisent C. , Puig L. , Gallardo D.
Thromb. Haemost.85:580-583(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ARG-193; CYS-391; CYS-550; CYS-612; HIS-1705; ARG-1782; GLU-1872; TRP-2016; PRO-2016; HIS-2169 AND HIS-2182
7.

Vidal F. , Farssac E. , Altisent C. , Puig L. , Gallardo D.
Thromb. Haemost.86:727-727(2001)

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
8.

"Skewed X-chromosome inactivation in monochorionic diamniotic twin sisters results in severe and mild hemophilia A."
Valleix S. , Vinciguerra C. , Lavergne J.-M. , Leuer M. , Delpech M. , Negrier C.
Blood100:3034-3036(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA CYS-35
9.

"Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A."
Mazurier C. , Parquet-Gernez A. , Gaucher C. , Lavergne J.-M. , Goudemand J.
Br. J. Haematol.119:390-392(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA GLY-198
10.

"Three novel point mutations causing haemophilia A."
Sukarova-Stefanovska E. , Zisovski N. , Muratovska O. , Kostova S. , Efremov G.D.
Haemophilia8:715-718(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA PRO-97 AND GLY-2193
11.

"The identification and classification of 41 novel mutations in the factor VIII gene (F8C)."
Cutler J.A. , Mitchell M.J. , Smith M.P. , Savidge G.F.
Hum. Mutat.19:274-278(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA THR-22; CYS-25; PRO-26; VAL-111; ARG-138; GLY-186; LYS-284; VAL-327; CYS-365; SER-431; PRO-437; CYS-455; HIS-579; HIS-584; PHE-650; ILE-681; GLN-725; VAL-1727; GLY-1740; CYS-1858; ASP-1869; ARG-1968; CYS-1998; ASN-2056; VAL-2070; ASN-2082; CYS-2145; ASP-2157; ALA-2173 AND PRO-2330
12.

"Identification of seven novel mutations of F8C by DHPLC."
Frusconi S. , Passerini I. , Girolami F. , Masieri M. , Linari S. , Longo G. , Morfini M. , Torricelli F.
Hum. Mutat.20:231-232(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA VAL-477; SER-1714; PRO-1777 AND PRO-2330
13.

"High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutations and genotype-phenotype correlation."
Citron M. , Godmilow L. , Ganguly T. , Ganguly A.
Hum. Mutat.20:267-274(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA TRP-172; LYS-291; CYS-301; ALA-345; HIS-391; VAL-439; CYS-442; LEU-470; GLY-532; MET-653; CYS-683; LYS-1336; HIS-1708; PRO-1875; ARG-1877; ILE-1965; PHE-2117; CYS-2182; TRP-2185; LEU-2224; GLU-2251; LEU-2290; CYS-2323 AND TYR-2345
14.

"Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses."
Liu M.-L. , Nakaya S. , Thompson A.R.
Thromb. Haemost.87:273-276(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA GLU-67; 84-ARG-PRO-85 DEL; PRO-85 DEL; MET-181; TYR-186; GLY-220; LEU-262; ARG-412; PHE-438; ASP-439; ARG-470; SER-513; SER-541; CYS-550; GLY-554; SER-583; GLN-594; ILE-609; CYS-612; ASN-635; THR-699; ILE-701; ILE-721; ARG-1779; LEU-1780; THR-1791; PRO-1798; HIS-1800; GLY-1848; ARG-1907; CYS-1907; THR-1939; VAL-1939; ILE-1982; GLN-1985; CYS-2015; TRP-2016; SER-2038; HIS-2169; ILE-2192 AND LEU-2326
15.

"11 hemophilia A patients without mutations in the factor VIII encoding gene."
Klopp N. , Oldenburg J. , Uen C. , Schneppenheim R. , Graw J.
Thromb. Haemost.88:357-360(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ASP-147; CYS-301; CYS-612; VAL-1945; CYS-2178 AND GLN-2326;VARIANT GLU-1260
16.

"Analysis of 18 novel mutations in the factor VIII gene."
Bicocchi M.P. , Pasino M. , Lanza T. , Bottini F. , Boeri E. , Mori P.G. , Molinari A.C. , Rosano C. , Acquila M.
Br. J. Haematol.122:810-817(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA LYS-72; HIS-155; GLU-181; ILE-254; SER-439; GLU-529; THR-567; SER-1804; SER-2051; ASN-2141 AND GLN-2262 INS
17.

"Somatic mosaicism in hemophilia A: a fairly common event."
Leuer M. , Oldenburg J. , Lavergne J.-M. , Ludwig M. , Fregin A. , Eigel A. , Ljung R. , Goodeve A. , Peake I. , Olek K.
Am. J. Hum. Genet.69:75-87(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ASP-89; ASP-99; HIS-101; TYR-135; PRO-327; GLY-409; ARG-498; ARG-603; ASP-637; GLY-1894; VAL-2045; LEU-2067; ARG-2172; CYS-2182; SER-2185; CYS-2279; LEU-2319; LEU-2326 AND PRO-2326
18.

"Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA."
Truett M.A. , Blacher R. , Burke R.L. , Caput D. , Chu C. , Dina D. , Hartog K. , Kuo C.H. , Masiarz F.R. , Merryweather J.P. , Najarian R. , Pachl C. , Potter S.J. , Puma J. , Quiroga M. , Rall L.B. , Randolph A. , Urdea M.S. , more...
DNA4:333-349(1985) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
19.

"Expression of active human factor VIII from recombinant DNA clones."
Wood W.I. , Capon D.J. , Simonsen C.C. , Eaton D.L. , Gitschier J. , Keyt B. , Seeburg P.H. , Smith D.H. , Hollingshead P. , Wion K.L. , Delwart E. , Tuddenham E.G.D. , Vehar G.A. , Lawn R.M.
Nature312:330-337(1984) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
20.

"Evidence for a third transcript from the human factor VIII gene."
Levinson B. , Kenwrick S. , Gamel P. , Fisher K. , Gitschier J.
Genomics14:585-589(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2);ALTERNATIVE SPLICING
21.

"Molecular cloning of a cDNA encoding human antihaemophilic factor."
Toole J.J. , Knopf J.L. , Wozney J.M. , Sultzman L.A. , Buecker J.L. , Pittman D.D. , Kaufman R.J. , Brown E. , Shoemaker C. , Orr E.C. , Amphlett G.W. , Foster W.B. , Coe M.L. , Knutson G.J. , Fass D.N. , Hewick R.M.
Nature312:342-347(1984) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
22.

"Sequence of the exon-containing regions of the human factor VIII gene."
Gitschier J. , Wood W.I.
Hum. Mol. Genet.1:199-200(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
23.

SeattleSNPs variation discovery resource
Submitted (2004-10) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS GLU-1260 AND VAL-2257
24.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
tissue: Hippocampus.
tissue: Kidney.
25.

"The DNA sequence of the human X chromosome."
Ross M.T. , Grafham D.V. , Coffey A.J. , Scherer S. , McLay K. , Muzny D. , Platzer M. , Howell G.R. , Burrows C. , Bird C.P. , Frankish A. , Lovell F.L. , Howe K.L. , Ashurst J.L. , Fulton R.S. , Sudbrak R. , Wen G. , Jones M.C. , more...
Nature434:325-337(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
26.

Mural R.J. , Istrail S. , Sutton G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
27.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
tissue: Brain.
28.

"Factor VIII gene normal intron 20 sequence."
de Water N.S. , Williams R. , Browett P.J.
Submitted (1997-06) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2064-2070
29.

"Characterization of tyrosine sulfate residues in antihemophilic recombinant factor VIII by liquid chromatography electrospray ionization tandem mass spectrometry and amino acid analysis."
Severs J.C. , Carnine M. , Eguizabal H. , Mock K.K.
Rapid Commun. Mass Spectrom.13:1016-1023(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 356-378; 727-752 AND 1672-1708;MASS SPECTROMETRY;SULFATION AT TYR-365; TYR-737; TYR-738; TYR-742; TYR-1683 AND TYR-1699
30.

"Sulfation of Tyr1680 of human blood coagulation factor VIII is essential for the interaction of factor VIII with von Willebrand factor."
Leyte A. , van Schijndel H.B. , Niehrs C. , Huttner W.B. , Verbeet M.P. , Mertens K. , van Mourik J.A.
J. Biol. Chem.266:740-746(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SULFATION AT TYR-1699
31.

"Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII."
Pittman D.D. , Wang J.H. , Kaufman R.J.
Biochemistry31:3315-3325(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SULFATION AT TYR-365; TYR-1683 AND TYR-1699;INTERACTION WITH VWF
32.

"The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor."
Saenko E.L. , Scandella D.
J. Biol. Chem.272:18007-18014(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH VWF
33.

"Locations of disulfide bonds and free cysteines in the heavy and light chains of recombinant human factor VIII (antihemophilic factor A)."
McMullen B.A. , Fujikawa K. , Davie E.W. , Hedner U. , Ezban M.
Protein Sci.4:740-746(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: DISULFIDE BONDS
34.

"Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
J. Proteome Res.4:2070-2080(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-601
tissue: Plasma.
35.

"Membrane-binding peptide from the C2 domain of factor VIII forms an amphipathic structure as determined by NMR spectroscopy."
Gilbert G.E. , Baleja J.D.
Biochemistry34:3022-3031(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 2322-2343
36.

"The molecular basis of hemophilia A."
Gitschier J.
Ann. N. Y. Acad. Sci.614:89-96(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON MOLECULAR BASIS OF HEMA
37.

"Factor VIII gene and hemophilia A."
White G.C. II , Shoemaker C.B.
Blood73:1-12(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON MOLECULAR BASIS OF HEMA
38.

"Molecular etiology of factor VIII deficiency in hemophilia A."
Antonarakis S.E. , Kazazian H.H. Jr. , Tuddenham E.G.D.
Hum. Mutat.5:1-22(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON MOLECULAR BASIS OF HEMA
39.

"Identification of a missense mutation in the factor VIII gene of a mild hemophiliac."
Gitschier J. , Wood W.I. , Shuman M.A. , Lawn R.M.
Science232:1415-1416(1986) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA GLN-2326
40.

"A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences."
Levinson B. , Janco R.L. , Phillips J.A. III , Gitschier J.
Nucleic Acids Res.15:9797-9805(1987) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA PRO-2135
41.

"Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides."
Youssoufian H. , Antonarakis S.E. , Bell W. , Griffin A.M. , Kazazian H.H. Jr.
Am. J. Hum. Genet.42:718-725(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA GLN-2228
42.

"Moderately severe hemophilia A resulting from Glu-->Gly substitution in exon 7 of the factor VIII gene."
Youssoufian H. , Wong C. , Aronis S. , Platokoukis H. , Kazazian H.H. Jr. , Antonarakis S.E.
Am. J. Hum. Genet.42:867-871(1988) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA GLY-291
43.

"Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A."
O'Brien D.P. , Tuddenham E.G.
Blood73:2117-2122(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA CYS-1708
44.

"An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule."
Shima M. , Ware J. , Yoshioka A. , Fukui H. , Fulcher C.A.
Blood74:1612-1617(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA CYS-391
45.

"A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A."
Chan V. , Chan T.K. , Tong T.M. , Todd D.
Blood74:2688-2691(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA LEU-189
46.

"Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene."
Inaba H. , Fujimaki M. , Kazazian H.H. Jr. , Antonarakis S.E.
Hum. Genet.81:335-338(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA LEU-2326
47.

"Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372-->histidine)."
Arai M. , Inaba H. , Higuchi M. , Antonarakis S.E. , Kazazian H.H. Jr. , Fujimaki M. , Hoyer L.W.
Proc. Natl. Acad. Sci. U.S.A.86:4277-4281(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA HIS-391
48.

"Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A."
Arai M. , Higuchi M. , Antonarakis S.E. , Kazazian H.H. Jr. , Phillips J.A. III , Janco R.L. , Hoyer L.W.
Blood75:384-389(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA CYS-1708
49.

"Recurrent mutations and three novel rearrangements in the factor VIII gene of hemophilia A patients of Italian descent."
Casula L. , Murru S. , Pecorara M. , Ristaldi M.S. , Restagno G. , Mancuso G. , Morfini M. , de Biasi R. , Baudo F. , Carbonara A.
Blood75:662-670(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA GLN-2228 AND LEU-2326
50.

"CRM+ haemophilia A due to a missense mutation (372-->Cys) at the internal heavy chain thrombin cleavage site."
Pattinson J.K. , McVey J.H. , Boon M. , Ajani A. , Tuddenham E.G.
Br. J. Haematol.75:73-77(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA CYS-391
51.

"Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA."
Higuchi M. , Wong C. , Kochhan L. , Olek K. , Aronis S. , Kasper C.K. , Kazazian H.H. Jr. , Antonarakis S.E.
Genomics6:65-71(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA PHE-1699 AND CYS-1708
52.

"Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene."
Traystman M.D. , Higuchi M. , Kasper C.K. , Antonarakis S.E. , Kazazian H.H. Jr.
Genomics6:293-301(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA CYS-1728 AND ASP-1941
53.

"Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis."
Kogan S. , Gitschier J.
Proc. Natl. Acad. Sci. U.S.A.87:2092-2096(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA LEU-345 AND ARG-348
54.

"Identification of mutations in two families with sporadic hemophilia A."
Paynton C. , Sarkar G. , Sommer S.S.
Hum. Genet.87:397-400(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA LYS-1723 AND SER-2319
55.

"Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene."
Higuchi M. , Kazazian H.H. Jr. , Kasch L. , Warren T.C. , McGinniss M.J. , Phillips J.A. III , Kasper C. , Janco R. , Antonarakis S.E.
Proc. Natl. Acad. Sci. U.S.A.88:7405-7409(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA THR-108; VAL-110; GLY-285; HIS-301; SER-312; ARG-444; HIS-492; GLY-561; CYS-612; THR-723; PHE-1699; HIS-1800; TYR-1803; ASP-1941; SER-1941; HIS-2169; GLN-2228 AND CYS-2323
56.

"Molecular characterization of mild-to-moderate hemophilia A: detection of the mutation in 25 of 29 patients by denaturing gradient gel electrophoresis."
Higuchi M. , Antonarakis S.E. , Kasch L. , Oldenburg J. , Economou-Petersen E. , Olek K. , Arai M. , Inaba H. , Kazazian H.H. Jr.
Proc. Natl. Acad. Sci. U.S.A.88:8307-8311(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS
57.

"Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain."
Schwaab R. , Ludwig M. , Kochhan L. , Oldenburg J. , McVey J.H. , Egli H. , Brackmann H.H. , Olek K.
Thromb. Res.61:225-234(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA CYS-1708 AND HIS-1708
58.

"GAA(Glu)272->AAA(Lys) and CGA(Arg)1941->CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin."
Krepelova A. , Vorlova Z. , Acquila M. , Mori P.
Br. J. Haematol.81:458-458(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA LYS-291 AND GLN-1960
59.

"Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP)."
Economou E.P. , Kazazian H.H. Jr. , Antonarakis S.E.
Genomics13:909-911(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA PRO-1845 AND PRO-2224 DEL
60.

"Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection."
Reiner A.P. , Thompson A.R.
Hum. Genet.89:88-94(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA GLY-1715
61.

"A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A."
Nafa K. , Baudis M. , Deburgrave N. , Bardin J.M. , Sultan Y. , Kaplan J.C. , Delpech M.
Hum. Mutat.1:77-78(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA LEU-1960
62.

"Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A."
Diamond C. , Kogan S. , Levinson B. , Gitschier J.
Hum. Mutat.1:248-257(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA VAL-30; VAL-89; VAL-92; ASP-104; VAL-164; MET-181; CYS-550; GLY-554; CYS-612; TRP-717; PHE-1808; SER-1941; ARG-2065; HIS-2169; CYS-2178 AND CYS-2248
63.

"Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis."
Jonsdottir S. , Diamond C. , Levinson B. , Magnusson S. , Jensson O. , Gitschier J.
Hum. Mutat.1:506-508(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA CYS-1800 AND ILE-2173
64.

"Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A."
McGinniss M.J. , Kazazian H.H. Jr. , Hoyer L.W. , Bi L. , Inaba H. , Antonarakis S.E.
Genomics15:392-398(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA LEU-308; HIS-391; TRP-546; PHE-577; ALA-653; MET-653; PHE-671 DEL; LYS-1460 AND CYS-2178
65.

"Double strand conformation polymorphism (DSCP) detects two point mutations at codon 280 (AAC-->ATC) and at codon 431 (TAC-->AAC) of the blood coagulation factor VIII gene."
Pieneman W.C. , Reitsma P.H. , Briet E.
Thromb. Haemost.69:473-475(1993) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ILE-299 AND ASN-450
66.

"Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients."
Arruda V.R. , Pieneman W.C. , Reitsma P.H. , Deutz-Terlouw P.P. , Annichino-Bizzacchi J.M. , Brieet E. , Costa F.F.
Blood86:3015-3020(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ARG-113; ASN-202; LEU-275; GLY-285; CYS-301; ASP-637; PHE-1808; PRO-1867; GLN-1960; HIS-2169; CYS-2178 AND THR-2281;VARIANT VAL-2257
67.

"Screening for mutations in haemophilia A patients by multiplex PCR-SSCP, Southern blotting and RNA analysis: the detection of a genetic abnormality in the factor VIII gene in 30 out of 35 patients."
Pieneman W.C. , Deutz-Terlouw P.P. , Reitsma P.H. , Brieet E.
Br. J. Haematol.90:442-449(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA HIS-217; ILE-299; ASN-450; TRP-546; CYS-612; VAL-705; CYS-1708; TRP-2016 AND ARG-2119
68.

"Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype."
Bidichandani S.I. , Lanyon W.G. , Shiach C.R. , Lowe G.D.O. , Connor J.M.
Hum. Genet.95:531-538(1995) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA GLU-75; MET-181; ASP-720; THR-1853 AND ILE-1888
69.

"Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies."
Becker J. , Schwaab R. , Moeller-Taube A. , Schwaab U. , Schmidt W. , Brackmann H.H. , Grimm T. , Olek K. , Oldenburg J.
Am. J. Hum. Genet.58:657-670(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ARG-26; LYS-48; ASP-89; ASP-99; VAL-101; ARG-117; GLY-135; ASP-219; ARG-278; LEU-301; GLN-302 DEL; PRO-327; PRO-659; LEU-1012; GLU-1260; CYS-1708; ASN-1865; ARG-1873; THR-1971; TRP-2016; GLN-2228; LEU-2326 AND SER-2344
70.

"Molecular characterization of haemophilia A in southern Chinese."
Chan V. , Pang A. , Chan T.P.T. , Chan V.W.-Y. , Chan T.K.
Br. J. Haematol.93:451-456(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA LEU-189; SER-263; ARG-947; LYS-1057; SER-1610 AND HIS-2169;VARIANT MET-2242
71.

"Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods."
Rudzki Z. , Duncan E.M. , Casey G.J. , Neumann M. , Favaloro E.J. , Lloyd J.V.
Br. J. Haematol.94:400-406(1996) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA GLU-303; LEU-308; HIS-550; LEU-717; TRP-717 AND PHE-1951
72.

"Mutations in the FVIII gene in seven families with mild haemophilia A."
Mazurier C. , Gaucher C. , Jorieux S. , Parquet-Gernez A.
Br. J. Haematol.96:426-427(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA PRO-303; TRP-546; HIS-550 AND ILE-1966
73.

"Factor VIII gene analysis in Japanese CRM-positive and CRM-reduced haemophilia A patients by single-strand conformation polymorphism."
Morichika S. , Shima M. , Kamisue S. , Tanaka I. , Imanaka Y. , Suzuki H. , Shibata H. , Pemberton S. , Gale K. , McVey J. , Tuddenham E.G.D. , Yoshioka A.
Br. J. Haematol.98:901-906(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA CYS-274; CYS-492; ARG-498; HIS-550; ARG-686; CYS-1708; GLN-1960; HIS-2169; CYS-2178; ALA-2264 AND VAL-2304
74.

"Mutational analysis of ectopic factor VIII transcripts from hemophilia A patients: identification of cryptic splice site, exon skipping and novel point mutations."
Tavassoli K. , Eigel A. , Pollmann H. , Horst J.
Hum. Genet.100:508-511(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA GLY-33; CYS-639; HIS-1800; LEU-1908 AND ARG-2106
75.

"A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins."
Liu M. , Murphy M.E.P. , Thompson A.R.
Br. J. Haematol.103:1051-1060(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA LYS-98; GLY-101; CYS-133; HIS-145; ALA-159; LYS-163; ASP-164; PRO-179; MET-181; LYS-291; ALA-297; GLU-303; SER-312; HIS-391; ILE-427; TRP-437; ASN-450; ILE-454; LEU-470; SER-541; TRP-546; CYS-550; HIS-550; PRO-553; THR-560; ALA-578; ARG-603; ILE-633; ASN-683; LEU-721; CYS-742; THR-1698; GLY-1715; ARG-1779; THR-1791; HIS-1800; ALA-1801; PHE-1901; GLN-1960; GLN-1985; ILE-2007; TRP-2016; ASP-2022; ASN-2030 AND SER-2038
76.

"Protein truncation test: detection of severe haemophilia a mutation and analysis of factor VIII transcripts."
Maugard C. , Tuffery S. , Aguilar-Martinez P. , Schved J.-F. , Gris J.-C. , Demaille J. , Claustres M.
Hum. Mutat.11:18-22(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA VAL-129; LYS-631 AND HIS-1800
77.

"Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophilia A with different phenotypes."
Theophilus B.D.M. , Enayat M.S. , Higuchi M. , Kazazian H.H. Jr. , Antonarakis S.E. , Hill F.G.H.
Hum. Mutat.11:334-334(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA HIS-2182
78.

"Fluorescent chemical cleavage of mismatches for efficient screening of the factor VIII gene."
Freson K. , Peerlinck K. , Aguirre T. , Arnout J. , Vermylen J. , Cassiman J.-J. , Matthijs G.
Hum. Mutat.11:470-479(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ASP-132; PHE-253; ILE-314; VAL-331; ARG-474; ARG-498; VAL-644; VAL-699; ASP-720; PHE-727 AND ASN-2105
79.

"Identification of four novel mutations in the factor VIII gene: three missense mutations (E1875G, G2088S, I2185T) and a 2-bp deletion (1780delTC)."
Tavassoli K. , Eigel A. , Dworniczak B. , Valtseva E. , Horst J.
Hum. Mutat. Suppl.1:S260-S262(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA GLY-550; THR-723; GLY-1894; SER-2107 AND THR-2204
80.

"Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping."
Tavassoli K. , Eigel A. , Wilke K. , Pollmann H. , Horst J.
Hum. Mutat.12:301-303(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA
81.

"Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene."
Laprise S.L. , Mak E.K. , Killoran K.A. , Layman L.C. , Gray M.R.
Hum. Mutat.12:393-402(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA VAL-439; CYS-1800; HIS-2169; HIS-2182 AND SER-2319
82.

"Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis."
Williams I.J. , Abuzenadah A. , Winship P.R. , Preston F.E. , Dolan G. , Wright J. , Peake I.R. , Goodeve A.C.
Thromb. Haemost.79:723-726(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA LYS-223; VAL-2045 AND CYS-2279;VARIANT VAL-2257
83.

"Factor VIII inhibitors in mild and moderate-severity haemophilia A."
UK haemophilia centre directors organisation , Hay C.R.M. , Ludlam C.A. , Colvin B.T. , Hill F.G.H. , Preston F.E. , Wasseem N. , Bagnall R. , Peake I.R. , Berntorp E. , Mauser Bunschoten E.P. , Fijnvandraat K. , Kasper C.K. , White G. , Santagostino E.
Thromb. Haemost.79:762-766(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA CYS-612; PHE-682; ARG-2028; CYS-2124; HIS-2169; HIS-2182; ASP-2200; CYS-2248 AND ILE-2279
84.

"Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain."
Keeling D.M. , Sukhu K. , Kemball-Cook G. , Waseem N. , Bagnall R. , Lloyd J.V.
Br. J. Haematol.105:1123-1126(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA LEU-1973
85.

"Screen of 55 Slovenian haemophilia A patients: identification of 2 novel mutations (S-1R and IVS23+1G-->A) and discussion of mutation spectrum."
Strmecki L. , Benedik-Dolnicar M. , Vouk K. , Komel R.
Hum. Mutat.13:413-413(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ARG-19; HIS-301; LEU-308; HIS-2169; GLN-2228 AND GLN-2326
86.

"Mutational-screening in the factor VIII gene resulting in the identification of three novel mutations, one of which is a donor splice mutation."
Moeller-Morlang K. , Tavassoli K. , Eigel A. , Pollmann H. , Horst J.
Hum. Mutat.13:504-504(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ARG-202 AND HIS-301
87.

"Start of UK confidential haemophilia A database: analysis of 142 patients by solid phase fluorescent chemical cleavage of mismatch."
The haemophilia centres , Waseem N.H. , Bagnall R. , Green P.M. , Giannelli F.
Thromb. Haemost.81:900-905(1999) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA CYS-24; ARG-26; TYR-113; SER-121; TRP-172; PRO-176; MET-181; VAL-214; THR-219; LYS-291; ALA-314; VAL-315; LYS-340; PHE-405; GLY-412; THR-470; GLU-474; ASN-478; CYS-484; GLY-490; ARG-498; TRP-546; CYS-550; HIS-561; ARG-584; THR-585; GLY-588; ASP-601; LYS-601; GLY-602; HIS-605; CYS-612; TRP-717; CYS-1708; GLN-1751; HIS-1800; CYS-1802; THR-1853; GLU-1864; PRO-1882; ILE-1888; LEU-1973; TRP-2016; ALA-2035; TYR-2040; CYS-2120; CYS-2145; HIS-2169; CYS-2178; HIS-2182; VAL-2183; VAL-2198; CYS-2248 AND GLY-2326
88.

"A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor."
Jacquemin M. , Lavend'homme R. , Benhida A. , Vanzieleghem B. , d'Oiron R. , Lavergne J.-M. , Brackmann H.H. , Schwaab R. , VandenDriessche T. , Chuah M.K.L. , Hoylaerts M. , Gilles J.G.G. , Peerlinck K. , Vermylen J. , Saint-Remy J.-M.R.
Blood96:958-965(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA SER-2117; TYR-2138; SER-2148; HIS-2169 AND GLN-2172;CHARACTERIZATION OF VARIANTS HEMA SER-2117; TYR-2138 AND HIS-2169
89.

"Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure."
Liu M.-L. , Shen B.W. , Nakaya S. , Pratt K.P. , Fujikawa K. , Davie E.W. , Stoddard B.L. , Thompson A.R.
Blood96:979-987(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA GLU-2106; CYS-2109; CYS-2169; CYS-2178; CYS-2182; ARG-2183; ILE-2192; PRO-2220; ALA-2251; LEU-2319; CYS-2323; GLY-2323; GLN-2326 AND THR-2339
90.

"Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A."
Roelse J.C. , De Laaf R.T.M. , Timmermans S.M.H. , Peters M. , Van Mourik J.A. , Voorberg J.
Br. J. Haematol.108:241-246(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA CYS-612 AND SER-637;CHARACTERIZATION OF VARIANTS HEMA CYS-612 AND SER-637
91.

"Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family."
Schwaab R. , Oldenburg J. , Kemball-Cook G. , Albert T. , Juhler C. , Hanfland P. , Ingerslev J.
Br. J. Haematol.109:523-528(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA ILE-713
92.

"Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis."
Tagariello G. , Belvini D. , Salviato R. , Are A. , De Biasi E. , Goodeve A. , Davoli P.
Haematologica85:525-529(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA HIS-35; LEU-295; SER-307; CYS-1909; PRO-2058; GLN-2228 AND ARG-2332
93.

"Relationship between factor VIII mutation type and inhibitor development in a cohort of previously untreated patients treated with recombinant factor VIII (Recombinate)."
Recombinate PUP study group , Goodeve A.C. , Williams I. , Bray G.L. , Peake I.R.
Thromb. Haemost.83:844-848(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA PRO-69; TYR-75; ARG-585; PRO-664; GLU-1779; ALA-2000; HIS-2169 AND PRO-2228
94.

"Mutations of the factor VIII gene in Thai hemophilia A patients."
Akkarapatumwong V. , Oranwiroon S. , Pung-amritt P. , Treesucon A. , Thanootarakul P. , Veerakul G. , Mahasandana C. , Panyim S. , Yenchitsomanus P.
Hum. Mutat.15:117-118(2000) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA TYR-561; VAL-1869 AND CYS-2344
95.

"Thirty-four novel mutations detected in factor VIII gene by multiplex CSGE: modeling of 13 novel amino acid substitutions."
Habart D. , Kalabova D. , Novotny M. , Vorlova Z.
J. Thromb. Haemost.1:773-781(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ARG-26; PRO-326; PHE-329; HIS-391; GLY-401; TYR-522; THR-540; TRP-546; TYR-588; CYS-683; SER-720; TYR-1066; HIS-1768; PRO-1771; HIS-1800; ASP-1904; PRO-1980; CYS-2169; HIS-2169; ASP-2174; CYS-2178; HIS-2178; CYS-2182; GLY-2228; PHE-2229; LEU-2319; CYS-2323; HIS-2323 AND SER-2345
96.

"Genotype and phenotype of haemophilia A in Thai patients."
Yenchitsomanus P. , Akkarapatumwong V. , Pung-Amritt P. , Intorasoot S. , Thanootarakul P. , Oranwiroon S. , Veerakul G. , Mahasandana C.
Haemophilia9:179-186(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ILE-252; TYR-561; VAL-1869; SER-2248 AND CYS-2344
97.

"Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations."
Bicocchi M.P. , Pasino M. , Lanza T. , Bottini F. , Molinari A.C. , Caprino D. , Rosano C. , Acquila M.
Am. J. Hematol.78:117-122(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA THR-111; ASP-450; CYS-612; HIS-1800; CYS-1802 AND ALA-2251
98.

"Mutation analysis in 51 patients with haemophilia A: report of 10 novel mutations and correlations between genotype and clinical phenotype."
Hill M. , Deam S. , Gordon B. , Dolan G.
Haemophilia11:133-141(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA CYS-365; THR-470; SER-541; GLY-602; TRP-717; LYS-1701; CYS-1708; VAL-1727; ILE-1888; VAL-1966; TRP-2016; GLY-2018; LEU-2067; LEU-2162 AND HIS-2182
99.

"Female haemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII."
Cai X.-H. , Wang X.-F. , Dai J. , Fang Y. , Ding Q.-L. , Xie F. , Wang H.-L.
J. Thromb. Haemost.4:1969-1974(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HEMA PRO-1994
100.

"Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites."
Vencesla A. , Corral-Rodriguez M.A. , Baena M. , Cornet M. , Domenech M. , Baiget M. , Fuentes-Prior P. , Tizzano E.F.
Blood111:3468-3478(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA ARG-83; ASN-186; PRO-195; PRO-261; ASP-280; SER-394; VAL-474; ARG-496; VAL-513; ARG-569; ILE-637; VAL-1720; LEU-1762; ASP-2101; PRO-2106; VAL-2143; LEU-2172; GLY-2286 AND PHE-2336
101.

"Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations."
Albanez S. , Ruiz-Saez A. , Boadas A. , De Bosch N. , Porco A.
Haemophilia17:913-918(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HEMA PHE-191; TYR-1877; ARG-2013 AND ASP-2344

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