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
Mutation analysis in 11 French patients with Fabry disease
✍ Scribed by Nathalie Guffon; Roseline Froissart; Françoise Chevalier-Porst; Dr. Irène Maire
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 192 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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