GLA ELISA Kit for Human(Homo sapiens) | EIAab.comGLA ELISA Kit for Human(Homo sapiens)

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

GLA (Gene name),

Alpha-galactosidase A (Protein name ), AGAL_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

GLA;

Protein name:

Alpha-galactosidase A;

Alternative:

Alpha-D-galactoside galactohydrolase;Alpha-D-galactosidase A;Melibiase;

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Homodimer.

Function:

N/A

Subcellular Location:

Lysosome

Protein Attributes:

Sequence length:

429

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

429:

SRLRSHINPT | GTVLLQLENT | MQMSLKDLL

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

String:

P06280

KEGG:

hsa:2717

MIM:

300644

SMR:

P06280

STRING:

9606.ENSP00000218516

UniGene:

Hs.69089

Pfam:

PF02065

Uniprot:

P06280

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ELISA Kit for Human Alpha-galactosidase A

Cat.:

E0173h

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Packing:

96T

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ELISA Kit for Human Alpha-galactosidase A

Cat.:

E0173m

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Manual:

Looking for manual.

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Packing:

96T

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CLIA Kit for Human Alpha-galactosidase A

Cat.:

U0173m

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Packing:

96T

CLIA Kit for Human Alpha-galactosidase A

Cat.:

U0173h

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MSDS:

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Packing:

96T

Polyclonal Antibody for Human Alpha-galactosidase A

Cat.:

P0173Rb-h

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human Alpha-galactosidase A

Cat.:

P0173Rb-m

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Packing:

40ug/0.2ml

Monoclonal Antibody for Human Alpha-galactosidase A

Protein for Human Alpha-galactosidase A

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

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

Linearity

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References

1.

"Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A."
Tsuji S. , Martin B.M. , Kaslow D.C. , Migeon B.R. , Choudary P.V. , Stubblefield B.K. , Mayor J.A. , Murray G.J. , Barranger J.A. , Ginns E.I.
Eur. J. Biochem.165:275-280(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: NUCLEOTIDE SEQUENCE [MRNA]
tissue: Fibroblast.
2.

"Nucleotide sequence of the human alpha-galactosidase A gene."
Kornreich R. , Desnick R.J. , Bishop D.F.
Nucleic Acids Res.17:3301-3302(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
tissue: Lymphoblast.
3.

"Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci."
Oeltjen J.C. , Liu X. , Lu J. , Allen R.C. , Muzny D.M. , Belmont J.W. , Gibbs R.A.
Mamm. Genome6:334-338(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
4.

"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]
5.

"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]
tissue: Uterus.
6.

"Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme."
Bishop D.F. , Calhoun D.H. , Bernstein H.S. , Hantzopoulos P. , Quinn M. , Desnick R.J.
Proc. Natl. Acad. Sci. U.S.A.83:4859-4863(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 27-429;PARTIAL PROTEIN SEQUENCE
tissue: Lung.
7.

"A genomic clone containing the promoter for the gene encoding the human lysosomal enzyme, alpha-galactosidase A."
Quinn M. , Hantzopoulos P. , Fidanza V. , Calhoun D.H.
Gene58:177-188(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: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-64
8.

"Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region."
Bishop D.F. , Kornreich R. , Desnick R.J.
Proc. Natl. Acad. Sci. U.S.A.85:3903-3907(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 [GENOMIC DNA] OF 1-64
9.

"Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion."
Novo F.J. , Kruszewski A. , McDermot K.D. , Goldspink G. , Gorecki D.C.
Nucleic Acids Res.23:2636-2640(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: RNA EDITING OF POSITION 396
10.

"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-215
tissue: Liver.
11.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
12.

"The molecular defect leading to Fabry disease: structure of human alpha-galactosidase."
Garman S.C. , Garboczi D.N.
J. Mol. Biol.337:319-335(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: X-RAY CRYSTALLOGRAPHY (3.45 ANGSTROMS) OF 32-422 IN COMPLEX WITH PRODUCT;HOMODIMERIZATION;GLYCOSYLATION AT ASN-139; ASN-192 AND ASN-215
13.

"Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene."
Eng C.M. , Desnick R.J.
Hum. Mutat.3:103-111(1994) [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 FD VARIANTS
14.

"A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser."
Koide T. , Ishiura M. , Iwai K. , Inoue M. , Kaneda Y. , Okada Y. , Uchida T.
FEBS Lett.259:353-356(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 FD SER-40
15.

"An atypical variant of Fabry's disease with manifestations confined to the myocardium."
von Scheidt W. , Eng C.M. , Fitzmaurice T.F. , Erdmann E. , Hubner G. , Olsen E.G.J. , Christomanou H. , Kandolf R. , Bishop D.F. , Desnick R.J.
N. Engl. J. Med.324:395-399(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: VARIANT FD VAL-296
16.

"Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease."
Sakuraba H. , Oshima A. , Fukuhara Y. , Shimmoto M. , Nagao Y. , Bishop D.F. , Desnick R.J. , Suzuki Y.
Am. J. Hum. Genet.47:784-789(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 FD GLN-301
17.

"Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene."
Bernstein H.S. , Bishop D.F. , Astrin K.H. , Kornreich R. , Eng C.M. , Sakuraba H. , Desnick R.J.
J. Clin. Invest.83:1390-1399(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 FD TRP-356
18.

"Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease."
Ishii S. , Sakuraba H. , Suzuki Y.
Hum. Genet.89:29-32(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 FD GLN-66; CYS-112; GLU-279; GLN-301 AND ARG-328
19.

"Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease."
Eng C.M. , Resnick-Silverman L.A. , Niehaus D.J. , Astrin K.H. , Desnick R.J.
Am. J. Hum. Genet.53:1186-1197(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 FD SER-34; GLY-56; ARG-162; GLN-227; VAL-264; VAL-266; PHE-297; TYR-313; ALA-328 AND ARG-404 DEL
20.

"Mutation analysis in patients with the typical form of Anderson-Fabry disease."
Davies J.P. , Winchester B.G. , Malcolm S.
Hum. Mol. Genet.2:1051-1053(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 FD SER-34; SER-215; ALA-269; LYS-327 AND ARG-361
21.

"Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease."
Davies J.P. , Christomanou H. , Winchester B.G. , Malcolm S.
Hum. Mol. Genet.3:667-669(1994) [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 FD ARG-35; LEU-49; VAL-165 AND GLU-316
22.

"Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene."
Eng C.M. , Niehaus D.J. , Enriquez A.L. , Burgert T.S. , Ludman M.D. , Desnick R.J.
Hum. Mol. Genet.3:1795-1799(1994) [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 FD
23.

"Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease."
Okumiya T. , Ishii S. , Takenaka T. , Kase R. , Kamei S. , Sakuraba H. , Suzuki Y.
Biochem. Biophys. Res. Commun.214:1219-1224(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 FD GLN-66; CYS-112; VAL-156; VAL-166; ALA-260; GLU-279; ILE-296; GLN-301; LYS-320; ARG-328 AND SER-373
24.

"Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins."
Okumiya T. , Ishii S. , Kase R. , Kamei S. , Sakuraba H. , Suzuki Y.
Hum. Genet.95:557-561(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 FD TYR-142; VAL-156 AND VAL-166
25.

"Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease."
Madsen K.M. , Hasholt L. , Soerensen S.A. , Lagerstroem Fermer M. , Dahl N.
Hum. Mutat.5:277-278(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 FD PRO-32; SER-34; ASP-85; THR-156 AND GLN-301
26.

"An atypical variant of Fabry's disease in men with left ventricular hypertrophy."
Nakao S. , Takenaka T. , Maeda M. , Kodama C. , Tanaka A. , Tahara M. , Yoshida A. , Kuriyama M. , Hayashibe H. , Sakuraba H. , Tanaka H.
N. Engl. J. Med.333:288-293(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 FD PRO-20 AND ILE-296
27.

"Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy."
Sawada K. , Mizoguchi K. , Hishida A. , Kaneko E. , Koide Y. , Nishimura K. , Kimura M.
Clin. Nephrol.45:289-294(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: VARIANT FD GLN-301
28.

"Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries."
Davies J.P. , Eng C.M. , Hill J.A. , Malcolm S. , MacDermot K. , Winchester B.G. , Desnick R.J.
Eur. J. Hum. Genet.4:219-224(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 FD VAL-42; SER-49; TYR-56; HIS-92; GLY-93; THR-205; CYS-236; GLY-287; HIS-298 AND ARG-340
29.

"Novel trinucleotide deletion in Fabry's disease."
Cariolou M.A. , Christodoulides M. , Manoli P. , Kokkofitou A. , Tsambaos D.
Hum. Genet.97:468-470(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: VARIANT FD PHE-383 DEL
30.

"Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease."
Germain D.P. , Biasotto M. , Tosi M. , Meo T. , Kahn A. , Poenaru L.
Hum. Genet.98:719-726(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 FD ARG-52; CYS-162; ARG-265 AND 316-VAL--ASP-322 DEL
31.

"A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene."
Blanch L.C. , Meaney C. , Morris C.P.
Hum. Mutat.8:38-43(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 FD ARG-52; GLU-128; THR-205; THR-284; LYS-298 AND GLU-358 DEL
32.

"Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene."
Redonnet-Vernhet I. , Ploos van Amstel J.K. , Jansen R.P.M. , Wevers R.A. , Salvayre R. , Levade T.
J. Med. Genet.33:682-688(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: VARIANT FD ASN-231
33.

"Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis."
Takata T. , Okumiya T. , Hayashibe H. , Shimmoto M. , Kase R. , Itoh K. , Utsumi K. , Kamei S. , Sakuraba H.
Brain Dev.19:111-116(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 FD PRO-20; SER-40; GLN-66; VAL-72; CYS-112; TYR-142; VAL-156; VAL-166; ASN-242; ALA-260; ASP-261; GLU-279; ILE-296; GLN-301; LYS-320; ARG-328; GLU-358 DEL AND SER-373
34.

"Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes."
Eng C.M. , Ashley G.A. , Burgert T.S. , Enriquez A.L. , D'Souza M. , Desnick R.J.
Mol. Med.3:174-182(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 FD VAL-31; 45-ARG-SER-46; ARG-46; CYS-86; PRO-89; THR-91; TYR-92; TYR-94; VAL-97; THR-100; LEU-113; SER-134; ARG-138; THR-143; ARG-148; VAL-163; VAL-170; TYR-202; 205-PRO--TYR-207 DEL; ASP-216; SER-263; CYS-287; SER-298 AND ARG-404 DEL
35.

"Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease."
Chen C.-H. , Shyu P.-W. , Wu S.-J. , Sheu S.-S. , Desnick R.J. , Hsiao K.-J.
Hum. Mutat.11:328-330(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 FD THR-65
36.

"A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease."
Miyazaki T. , Kajita M. , Ohmori S. , Mizutani N. , Niwa T. , Murata Y. , Seo H.
Hum. Mutat. Suppl.1:S139-S140(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 FD LYS-358
37.

"Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote."
Okumiya T. , Kawamura O. , Itoh K. , Kase R. , Ishii S. , Kamei S. , Sakuraba H.
Hum. Mutat. Suppl.1:S213-S216(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 FD VAL-72
38.

"Mutation analysis in 11 French patients with Fabry disease."
Guffon N. , Froissart R. , Chevalier-Porst F. , Maire I.
Hum. Mutat. Suppl.1:S288-S290(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 FD SER-40; SER-215; ASP-224; TYR-313 AND TRP-THR-SER-247 INS
39.

"Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches."
Germain D.P. , Poenaru L.
Biochem. Biophys. Res. Commun.257:708-713(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 FD TRP-202; GLY-223; ASP-224; GLN-301 AND LYS-327
40.

"The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A."
Beyer E.M. , Karpova E.A. , Udalova O.V. , Ploos van Amstel J.K. , van Diggelen O.P. , Tsvetkova I.V.
Clin. Chim. Acta280:81-89(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 FD LYS-341
41.

"Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease."
Kase R. , Bierfreund U. , Klein A. , Kolter T. , Utsumi K. , Itoh K. , Sandhoff K. , Sakuraba H.
Biochim. Biophys. Acta1501:227-235(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: CHARACTERIZATION OF VARIANTS FD GLU-279 AND GLN-301
42.

"Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease."
Topaloglu A.K. , Ashley G.A. , Tong B. , Shabbeer J. , Astrin K.H. , Eng C.M. , Desnick R.J.
Mol. Med.5:806-811(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 FD VAL-42; CYS-112; ARG-142; ARG-148; VAL-165; ASP-183; SER-215; CYS-235; LEU-236; HIS-244; LEU-259; ILE-267; PHE-289; GLU-321; GLU-358 DEL AND TYR-378
43.

"Identification of four novel mutations in five unrelated Korean families with Fabry disease."
Lee J.-K. , Kim G.-H. , Kim J.-S. , Kim K.-K. , Lee M.-C. , Yoo H.-W.
Clin. Genet.58:228-233(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 FD ASN-266
44.

"Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes."
Ashton-Prolla P. , Tong B. , Shabbeer J. , Astrin K.H. , Eng C.M. , Desnick R.J.
J. Invest. Med.48:227-235(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 FD LEU-40; SER-95; CYS-112; HIS-112; ASN-148; ARG-172; VAL-187; SER-224; ARG-226; GLN-227; THR-230; HIS-266; GLN-301 AND TYR-320
45.

"Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease."
Germain D.P. , Salard D. , Fellmann F. , Azibi K. , Caillaud C. , Bernard M.-C. , Poenaru L.
Hum. Mutat.17:353-353(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 FD ASP-373
46.

"Fabry disease: 20 novel GLA mutations in 35 families."
Blaydon D. , Hill J.A. , Winchester B.G.
Hum. Mutat.18:459-459(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 FD TYR-46; GLY-47; PRO-49; SER-94; SER-95; CYS-112; SER-113; THR-143; SER-215; ARG-258; ARG-259; ILE-267; HIS-279; HIS-280; HIS-298; TYR-313; HIS-363; ASP-377; ALA-409 AND THR-409
47.

"Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course."
Branton M.H. , Schiffmann R. , Sabnis S.G. , Murray G.J. , Quirk J.M. , Altarescu G. , Goldfarb L. , Brady R.O. , Balow J.E. , Austin H.A. III , Kopp J.B.
Medicine (Baltimore)81:122-138(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 FD PRO-143
48.

"Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease."
Yang C.-C. , Lai L.-W. , Whitehair O. , Hwu W.-L. , Chiang S.-C. , Lien Y.-H.H.
Clin. Genet.63:205-209(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: VARIANT FD ALA-410
49.

"Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease."
Lai L.-W. , Whitehair O. , Wu M.-J. , O'Meara M. , Lien Y.-H.H.
Clin. Genet.63:476-482(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: CHARACTERIZATION OF VARIANT FD THR-65
50.

"Remarkable variability in renal disease in a large Slovenian family with Fabry disease."
Verovnik F. , Benko D. , Vujkovac B. , Linthorst G.E.
Eur. J. Hum. Genet.12:678-681(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: VARIANT FD SER-272
51.

"Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography."
Shabbeer J. , Robinson M. , Desnick R.J.
Hum. Mutat.25:299-305(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 FD VAL-31; LEU-42; ARG-43; ASN-93; CYS-112; HIS-112; SER-112; SER-134; VAL-135; ASP-171; PHE-201; SER-215; GLU-234; ASP-261; TYR-264; VAL-264; GLY-276; PRO-285; PHE-300; ALA-328; VAL-328; LYS-338; ALA-358; GLU-358 DEL; ARG-404 DEL AND SER-414
52.

"Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome."
Nance C.S. , Klein C.J. , Banikazemi M. , Dikman S.H. , Phelps R.G. , McArthur J.C. , Rodriguez M. , Desnick R.J.
Arch. Neurol.63:453-457(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 FD THR-143
53.

"Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)."
Hwu W.L. , Chien Y.H. , Lee N.C. , Chiang S.C. , Dobrovolny R. , Huang A.C. , Yeh H.Y. , Chao M.C. , Lin S.J. , Kitagawa T. , Desnick R.J. , Hsu L.W.
Hum. Mutat.30:1397-1405(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: VARIANTS FD 12-CYS--LEU-14 DEL; PRO-46; GLN-66; ASN-93; VAL-120; THR-219; GLN-356 AND CYS-360;CHARACTERIZATION OF VARIANTS FD 12-CYS--LEU-14 DEL; PRO-46; GLN-66; ASN-93; VAL-120; THR-219; GLN-356 AND CYS-360

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