Llwytho...
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...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , |
|---|---|
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
1989
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC303833/ https://ncbi.nlm.nih.gov/pubmed/2539398 |
| Tagiau: |
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