Fabry-database.org: Database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease

Journal of Human Genetics

Volumn 56, Issue 6, 2011, Pages 467-468

  Saito, Seiji ^a   Ohno, Kazuki ^b,d   Sakuraba, Hitoshi ^c  

^a UNIVERSITY OF TOKYO   (Japan)

^b NPO for the Promotion of Research on Intellectual Property Tokyo   (Japan)

^c MEIJI PHARMACEUTICAL UNIVERSITY   (Japan)

^d ASTELLAS PHARMA INC   (Japan)

Author keywords

a galactosidase A; Amino acid substitution; database; Fabry disease; protein structure

Indexed keywords

ALPHA GALACTOSIDASE;

ARTICLE; ENZYME DEFICIENCY; FABRY DISEASE; GENE MUTATION; GENE STRUCTURE; GENETIC DATABASE; GENOTYPE; INTERNET; PHENOTYPE; STRUCTURE ANALYSIS;

ALPHA-GALACTOSIDASE; DATABASES, GENETIC; FABRY DISEASE; GENOTYPE; HUMANS; INTERNET; MUTATION; PHENOTYPE; USER-COMPUTER INTERFACE;

EID: 79959675494     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2011.31     Document Type: Article

References (6)

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4. Lee, B. H., Heo, S. H., Kim, G.- W., Park, J.- Y., Kim, W.- S., Kang, D H et al. Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns. J. Hum. Genet. 55, 512-517 (2010).
5. Sugawara, K., Ohno, K., Saito, S. & Sakuraba, H. Structural characterization of mutant alpha-galactosidases causing Fabry disease. J. Hum. Genet. 53, 812-824 (2008).
6. Matsuzawa, F., Aikawa, S., Doi, H., Okumiya, T. & Sakuraba, H. Fabry disease: Correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes. Hum. Genet. 117, 317-328 (2005). (Pubitemid 41194558)