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Article

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

Journal of human genetics - 1 Jun 2011

Saito Seiji, Ohno Kazuki, Sakuraba Hitoshi

Abstract excerpt

Fabry disease is a genetic disorder caused by a deficiency of α-galactosidase A (GLA). In our previous studies, we structurally investigated Fabry disease using a structural analysis system, and revealed that structural changes in GLA are very important for understanding the molecular basis of this disease. To the best of our knowledge, there is no database including the structures of mutant GLAs. Herein, we...

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Identifiers

PMID: 21412250
DOI: 10.1038/jhg.2011.31

Genes

GLA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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