Fabry disease, an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the a-galactosidase A gene at Xq22.1. Studies of the mutations in unrelated Fabry families have identified a variety of lesions indicating the molecular genetic heterogeneity underlying the disease. Fo
✦ LIBER ✦
Mutation patterns in humanα-galactosidase A
✍ Scribed by Shaomin Yan; Guang Wu
- Book ID
- 106468300
- Publisher
- Springer
- Year
- 2009
- Tongue
- English
- Weight
- 243 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1381-1991
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