CFH ELISA Kit for Human(Homo sapiens) | EIAab.comCFH ELISA Kit for Human(Homo sapiens)

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CFH (Gene name),

Complement factor H (Protein name ), CFAH_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

Citations (1)

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Gene name:

CFH(HF;HF1;HF2);

Protein name:

Complement factor H;

Alternative:

H factor 1;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

N/A

Function:

Factor H functions as a cofactor in the inactivation of C3b by factor I and also increases the rate of dissociation of the C3bBb complex (C3 convertase) and the (C3b)NBB complex (C5 convertase) in the alternative complement pathway.

Subcellular Location:

Secreted

Protein Attributes:

Sequence length:

1231

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

800:

850:

900:

950:

1000:

1050:

1100:

1150:

1200:

1231:

CKRGYRLSSR | SHTLRTTCWD | GKLEYPTCAK | R

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

String:

P08603

KEGG:

hsa:3075

UniGene:

Hs.363396

MIM:

126700

Pfam:

PF00084

SMR:

P08603

Uniprot:

P08603

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ELISA Kit for Human Complement factor H

Cat.:

E0635h

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96T

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ELISA Kit for Human Complement factor H

Cat.:

E0635b

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96T

ELISA Kit for Human Complement factor H

Cat.:

E0635m

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96T

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CLIA Kit for Human Complement factor H

Cat.:

U0635h

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Looking for manual.

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96T

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CLIA Kit for Human Complement factor H

Cat.:

U0635b

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96T

CLIA Kit for Human Complement factor H

Cat.:

U0635m

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96T

Polyclonal Antibody for Human Complement factor H

Cat.:

P0635Rb-h

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Complement factor H

Cat.:

P0635Rb-m

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Complement factor H

Monoclonal Antibody for Human Complement factor H

Protein for Human Complement factor H

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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Citations

[1].

"IL-6 and IL-8 enhance factor H binding to the cell membranes"

Popek S, Kapka-Skrzypczak L, Sawicki K, et al

From:Molecular medicine reports

References

1.

"The complete amino acid sequence of human complement factor H."
Ripoche J. , Day A.J. , Harris T.J.R. , Sim R.B.
Biochem. J.249:593-602(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2);GLYCOSYLATION AT ASN-529;VARIANTS HIS-402 AND ARG-493
tissue: Liver.
2.

SeattleSNPs variation discovery resource
Submitted (2005-10) 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 ILE-62; THR-551; ILE-890; ASP-936; ILE-1007; ILE-1017; TYR-1050 AND THR-1059
3.

"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G. , Barlow K.F. , McLay K.E. , Kaul R. , Swarbreck D. , Dunham A. , Scott C.E. , Howe K.L. , Woodfine K. , Spencer C.C.A. , Jones M.C. , Gillson C. , Searle S. , Zhou Y. , Kokocinski F. , McDonald L. , Evans R. , Phillips K. , more...
Nature441:315-321(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA];VARIANT HIS-402
4.

"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] (ISOFORMS 1 AND 2);VARIANT ILE-62
tissue: Testis.
tissue: Urinary bladder.
5.

"Human complement factor H: isolation of cDNA clones and partial cDNA sequence of the 38-kDa tryptic fragment containing the binding site for C3b."
Schulz T.F. , Schwaeble W. , Stanley K.K. , Weiss E. , Dierich M.P.
Eur. J. Immunol.16:1351-1355(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: NUCLEOTIDE SEQUENCE [MRNA] OF 53-445
6.

"Structural analysis of human complement protein H: homology with C4b binding protein, beta 2-glycoprotein I, and the Ba fragment of B2."
Kristensen T. , Wetsel R.A. , Tack B.F.
J. Immunol.136:3407-3411(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: NUCLEOTIDE SEQUENCE [MRNA] OF 226-449;PROTEIN SEQUENCE OF 205-216; 237-246; 320-331; 425-435; 508-518; 645-662; 667-717; 858-885; 907-972; 1163-1182 AND 1193-1203
7.

"Cloning of the 1.4-kb mRNA species of human complement factor H reveals a novel member of the short consensus repeat family related to the carboxy terminal of the classical 150-kDa molecule."
Estaller C. , Koistinen V. , Schwaeble W. , Dierich M.P. , Weiss E.H.
J. Immunol.146:3190-3196(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: NUCLEOTIDE SEQUENCE [MRNA] OF 1047-1231
8.

"Purification and structural studies on the complement-system control protein beta 1H (Factor H)."
Sim R.B. , Discipio R.G.
Biochem. J.205:285-293(1982) [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 19-35
9.

Vik D.P. , Williams S.A.
Submitted (1996-04) 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 1-19
10.

Dominguez O.

[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 1-9
11.

"Screening for N-glycosylated proteins by liquid chromatography mass spectrometry."
Bunkenborg J. , Pilch B.J. , Podtelejnikov A.V. , Wisniewski J.R.
Proteomics4:454-465(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-882
tissue: Plasma.
12.

"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-529 AND ASN-911
tissue: Plasma.
13.

"Site-specific N-glycan characterization of human complement factor H."
Fenaille F. , Le Mignon M. , Groseil C. , Ramon C. , Riande S. , Siret L. , Bihoreau N.
Glycobiology17:932-944(2007) [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 AT ASN-529; ASN-718; ASN-802; ASN-822; ASN-882; ASN-911; ASN-1029 AND ASN-1095
14.

"Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
J. Proteome Res.8:651-661(2009) [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-529; ASN-802; ASN-882; ASN-911 AND ASN-1029
tissue: Liver.
15.

"A strategy for precise and large scale identification of core fucosylated glycoproteins."
Jia W. , Lu Z. , Fu Y. , Wang H.P. , Wang L.H. , Chi H. , Yuan Z.F. , Zheng Z.B. , Song L.N. , Han H.H. , Liang Y.M. , Wang J.L. , Cai Y. , Zhang Y.K. , Deng Y.L. , Ying W.T. , He S.M. , Qian X.H.
Mol. Cell. Proteomics8:913-923(2009) [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 AT ASN-217; ASN-882; ASN-911 AND ASN-1029
16.

"Enrichment of glycopeptides for glycan structure and attachment site identification."
Nilsson J. , Rueetschi U. , Halim A. , Hesse C. , Carlsohn E. , Brinkmalm G. , Larson G.
Nat. Methods6:809-811(2009) [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-882;STRUCTURE OF CARBOHYDRATES
tissue: Cerebrospinal fluid.
17.

"Three-dimensional structure of a complement control protein module in solution."
Norman D.G. , Barlow P.N. , Baron M. , Day A.J. , Sim B. , Campbell I.D.
J. Mol. Biol.219:717-725(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: STRUCTURE BY NMR OF 927-985 (SUSHI 16)
18.

"Solution structure of the fifth repeat of factor H: a second example of the complement control protein module."
Barlow P.N. , Norman D.G. , Steinkasserer A. , Horne T.J. , Pearce J. , Driscoll P.C. , Sim B. , Campbell I.D.
Biochemistry31:3626-3634(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: STRUCTURE BY NMR OF 264-322 (SUSHI 5)
19.

"Solution structure of a pair of complement modules by nuclear magnetic resonance."
Barlow P.N. , Steinkasserer A. , Norman D.G. , Kieffer B. , Wiles A.P. , Sim B. , Campbell I.D.
J. Mol. Biol.232:268-284(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: STRUCTURE BY NMR OF 866-985 (SUSHIS 15 AND 16)
20.

"Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism."
Ault B.H. , Schmidt B.Z. , Fowler N.L. , Kashtan C.E. , Ahmed A.E. , Vogt B.A. , Colten H.R.
J. Biol. Chem.272:25168-25175(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 CFHD ARG-536 AND TYR-959
21.

"Genetic studies into inherited and sporadic hemolytic uremic syndrome."
Warwicker P. , Goodship T.H.J. , Donne R.L. , Pirson Y. , Nicholls A. , Ward R.M. , Turnpenny P. , Goodship J.A.
Kidney Int.53:836-844(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 AHUS1 GLY-1215
22.

"Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome."
Ying L. , Katz Y. , Schlesinger M. , Carmi R. , Shalev H. , Haider N. , Beck G. , Sheffield V.C. , Landau D.
Am. J. Hum. Genet.65:1538-1546(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 AHUS1 LEU-1191
23.

"Complement factor H gene mutation associated with autosomal recessive atypical hemolytic uremic syndrome."
Buddles M.R.H. , Donne R.L. , Richards A. , Goodship J. , Goodship T.H.J.
Am. J. Hum. Genet.66:1721-1722(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 AHUS1 1225-TYR--ARG-1231 DELINS PHE-GLN-SER
24.

"Molecular basis for factor H and FHL-1 deficiency in an Italian family."
Sanchez-Corral P. , Bellavia D. , Amico L. , Brai M. , Rodriguez de Cordoba S.
Immunogenetics51:366-369(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: INVOLVEMENT IN CFHD
25.

"Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome."
Perez-Caballero D. , Gonzalez-Rubio C. , Gallardo M.E. , Vera M. , Lopez-Trascasa M. , Rodriguez de Cordoba S. , Sanchez-Corral P.
Am. J. Hum. Genet.68:478-484(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 CFHD MET-956; LEU-1183; ARG-1189 AND ALA-1197
26.

"Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition."
Richards A. , Buddles M.R. , Donne R.L. , Kaplan B.S. , Kirk E. , Venning M.C. , Tielemans C.L. , Goodship J.A. , Goodship T.H.J.
Am. J. Hum. Genet.68:485-490(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 CFHD GLU-1076; GLY-1119 AND ARG-1184
27.

"The molecular basis of familial hemolytic uremic syndrome: mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20."
Italian registry of familial and recurrent HUS/TTP , Caprioli J. , Bettinaglio P. , Zipfel P.F. , Amadei B. , Daina E. , Gamba S. , Skerka C. , Marziliano N. , Remuzzi G. , Noris M.
J. Am. Soc. Nephrol.12:297-307(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 CFHD CYS-1210 AND GLN-1215
28.

"Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic syndrome and a predicted heparin binding site."
Perkins S.J. , Goodship T.H.J.
J. Mol. Biol.316:217-224(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 AHUS1 MET-956; GLU-1076; GLY-1119; LEU-1183; ARG-1184; ARG-1189; LEU-1191; ASP-1194; ALA-1197; CYS-1210; GLY-1215 AND GLN-1215
29.

"Combined kidney and liver transplantation for familial haemolytic uraemic syndrome."
Remuzzi G. , Ruggenenti P. , Codazzi D. , Noris M. , Caprioli J. , Locatelli G. , Gridelli B.
Lancet359:1671-1672(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 CFHD ARG-1183
30.

"Complement factor H mutations and gene polymorphisms in haemolytic uraemic syndrome: the C-257T, the A2089G and the G2881T polymorphisms are strongly associated with the disease."
International registry of recurrent and familial HUS/TTP , Caprioli J. , Castelletti F. , Bucchioni S. , Bettinaglio P. , Bresin E. , Pianetti G. , Gamba S. , Brioschi S. , Daina E. , Remuzzi G. , Noris M.
Hum. Mol. Genet.12:3385-3395(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 AHUS1 GLY-78; HIS-950; HIS-951; TRP-1163 AND ALA-1198;VARIANT ASP-936
31.

"Haemolytic uraemic syndrome and mutations of the factor H gene: a registry-based study of German speaking countries."
Neumann H.P.H. , Salzmann M. , Bohnert-Iwan B. , Mannuelian T. , Skerka C. , Lenk D. , Bender B.U. , Cybulla M. , Riegler P. , Koenigsrainer A. , Neyer U. , Bock A. , Widmer U. , Male D.A. , Franke G. , Zipfel P.F.
J. Med. Genet.40:676-681(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 AHUS1 TRP-630; LYS-850; CYS-978; PHE-1021; ARG-1043; GLY-1134; ASP-1142; ARG-1157; ARG-1183 AND SER-1226
32.

"Heterozygous and homozygous factor H deficiencies associated with hemolytic uremic syndrome or membranoproliferative glomerulonephritis: report and genetic analysis of 16 cases."
Dragon-Durey M.-A. , Fremeaux-Bacchi V. , Loirat C. , Blouin J. , Niaudet P. , Deschenes G. , Coppo P. , Herman Fridman W. , Weiss L.
J. Am. Soc. Nephrol.15:787-795(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: VARIANTS CFHD LEU-127; SER-431 AND SER-673;VARIANTS AHUS1 LYS-400; TYR-673; ARG-893; SER-915; LEU-1183 AND SER-1199
33.

"Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration."
Zareparsi S. , Branham K.E.H. , Li M. , Shah S. , Klein R.J. , Ott J. , Hoh J. , Abecasis G.R. , Swaroop A.
Am. J. Hum. Genet.77:149-153(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: VARIANT HIS-402
34.

"A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration."
Hageman G.S. , Anderson D.H. , Johnson L.V. , Hancox L.S. , Taiber A.J. , Hardisty L.I. , Hageman J.L. , Stockman H.A. , Borchardt J.D. , Gehrs K.M. , Smith R.J.H. , Silvestri G. , Russell S.R. , Klaver C.C.W. , Barbazetto I. , Chang S. , Yannuzzi L.A. , Barile G.R. , more...
Proc. Natl. Acad. Sci. U.S.A.102:7227-7232(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 ILE-62 AND HIS-402;ASSOCIATION WITH ARMD
35.

"Complement factor H polymorphism in age-related macular degeneration."
Klein R.J. , Zeiss C. , Chew E.Y. , Tsai J.-Y. , Sackler R.S. , Haynes C. , Henning A.K. , SanGiovanni J.P. , Mane S.M. , Mayne S.T. , Bracken M.B. , Ferris F.L. , Ott J. , Barnstable C. , Hoh J.
Science308:385-389(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: ASSOCIATION OF VARIANT HIS-402 WITH ARMD
36.

"Complement factor H variant increases the risk of age-related macular degeneration."
Haines J.L. , Hauser M.A. , Schmidt S. , Scott W.K. , Olson L.M. , Gallins P. , Spencer K.L. , Kwan S.Y. , Noureddine M. , Gilbert J.R. , Schnetz-Boutaud N. , Agarwal A. , Postel E.A. , Pericak-Vance M.A.
Science308:419-421(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: ASSOCIATION OF VARIANT HIS-402 WITH ARMD
37.

"Complement factor H polymorphism and age-related macular degeneration."
Edwards A.O. , Ritter R. III , Abel K.J. , Manning A. , Panhuysen C. , Farrer L.A.
Science308:421-424(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: ASSOCIATION OF VARIANT HIS-402 WITH ARMD
38.

"Deletion of Lys224 in regulatory domain 4 of factor H reveals a novel pathomechanism for dense deposit disease (MPGN II)."
Licht C. , Heinen S. , Jozsi M. , Loeschmann I. , Saunders R.E. , Perkins S.J. , Waldherr R. , Skerka C. , Kirschfink M. , Hoppe B. , Zipfel P.F.
Kidney Int.70:42-50(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 CFHD LYS-224 DEL;CHARACTERIZATION OF VARIANT CFHD LYS-224 DEL
39.

"Basal laminar drusen caused by compound heterozygous variants in the CFH gene."
Boon C.J.F. , Klevering B.J. , Hoyng C.B. , Zonneveld-Vrieling M.N. , Nabuurs S.B. , Blokland E. , Cremers F.P.M. , den Hollander A.I.
Am. J. Hum. Genet.82:516-523(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: INVOLVEMENT IN BASAL LAMINAR DRUSEN;VARIANTS HIS-402; GLY-567; ASP-936; TYR-1050 AND SER-1078
40.

"Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome."
Maga T.K. , Nishimura C.J. , Weaver A.E. , Frees K.L. , Smith R.J.H.
Hum. Mutat.31:E1445-E1460(2010) [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 AHUS1 TYR-325; ILE-609; LEU-1169 AND CYS-1183;VARIANT ASP-936
41.

"Quantitative detection of single amino acid polymorphisms by targeted proteomics."
Su Z.D. , Sun L. , Yu D.X. , Li R.X. , Li H.X. , Yu Z.J. , Sheng Q.H. , Lin X. , Zeng R. , Wu J.R.
J. Mol. Cell Biol.3:309-315(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 ILE-62; LYS-850; TYR-959 AND GLU-1143;IDENTIFICATION BY MASS SPECTROMETRY
42.

"A rare penetrant mutation in CFH confers high risk of age-related macular degeneration."
Raychaudhuri S. , Iartchouk O. , Chin K. , Tan P.L. , Tai A.K. , Ripke S. , Gowrisankar S. , Vemuri S. , Montgomery K. , Yu Y. , Reynolds R. , Zack D.J. , Campochiaro B. , Campochiaro P. , Katsanis N. , Daly M.J. , Seddon J.M.
Nat. Genet.43:1232-1236(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: VARIANT ARMD4 CYS-1210

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