טוען...
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...
שמור ב:
| Main Authors: | , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
1989
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC303833/ https://ncbi.nlm.nih.gov/pubmed/2539398 |
| תגים: |
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