Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.

Fabry disease, an X-linked recessive disorder of glycosphingolipid catabolism, results from the deficient activity of the lysosomal hydrolase, alpha-galactosidase. Southern hybridization analysis of the alpha-galactosidase gene in affected hemizygous males from 130 unrelated families with Fabry dise...

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Pubblicato in:	J Clin Invest
Autori principali:	Bernstein, H S, Bishop, D F, Astrin, K H, Kornreich, R, Eng, C M, Sakuraba, H, Desnick, R J
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	American Society for Clinical Investigation 1989
Soggetti:	Research Article
Accesso online:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC303833/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/2539398/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI114027
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