Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A (alpha-Gal A) gene at Xq22.1. To determine the nature and frequency of the molecular lesions causing the classical and milder-variant Fabry phenotypes, and for precise carrier...

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Autores principales: Eng, C M, Resnick-Silverman, L A, Niehaus, D J, Astrin, K H, Desnick, R J
Formato: Artigo
Lenguaje:Inglês
Publicado: 1993
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682507/
https://ncbi.nlm.nih.gov/pubmed/7504405
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