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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| Vydáno v: | J Clin Invest |
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| Hlavní autoři: | , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Clinical Investigation
1989
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| Témata: | |
| On-line přístup: | 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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