Fabry disease: 20 novel GLA mutations in 35 families
✍ Scribed by Diana Blaydon; Jane Hill; Bryan Winchester
- Book ID
- 102258848
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 35 KB
- Volume
- 18
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Fabry disease (FD) is an X-chromosomal disorder caused by mutations in the GLA gene encoding the lysosomal enzyme α-galactosidase A. We performed mutation screening on a cohort of 121 patients including 84 male and 37 female index cases and identified a total of 90 different mutations, 34 of which a
Fabry disease, an X -linked inborn error of glycosphingolipid catabolism, results from mutations in the α-galactosidase A gene (GLA). Here we report molecular studies in 22 unrelated Spanish patients with Fabry disease ( 20 males and two females). Fifteen novel mutations were identified. In addition
Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme α αgalactosidase A. The mutations responsible for Fabry disease are diverse and include large rearrangements as well as single base substitutions, and they are dispersed throughout the seven exons of the gene. In th