Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.

BACKGROUND: Fabry disease (OMIM 301500) is an X-linked inborn error of glycosphingolipid metabolism resulting from mutations in the alpha-galactosidase A (alpha-Gal A) gene. The disease is phenotypically heterogeneous with classic and variant phenotypes. To assess the molecular heterogeneity, define...

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Bibliographic Details
Main Authors: Germain, Dominique P., Shabbeer, Junaid, Cotigny, Sylvie, Desnick, Robert J.
Format: Artigo
Language:Inglês
Published: 2002
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2039995/
https://ncbi.nlm.nih.gov/pubmed/12428061
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