The demographics and prevalence of the most frequently reported α-galactosidase A mutations in Fabry patients: data from the Fabry Registry
✍ Scribed by Laney, Dawn A.
- Book ID
- 122168398
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 198 KB
- Volume
- 111
- Category
- Article
- ISSN
- 1096-7192
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📜 SIMILAR VOLUMES
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
Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of a-galactosidase A (a-gal; EC 3.2.1.22). In the past, it has been difficult to give an unequivocal diagnosis of carrier status in Fabry disease because of the overlap between normal and heterozygote enzyme lev