Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme Ξ± Ξ±galactosidase 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
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Identification of new mutations and one polymorphism (D313Y) in patients with Fabry disease
β Scribed by R Froissart; N Guffon; V Bonnet; I Maire
- Book ID
- 114813325
- Publisher
- John Wiley and Sons
- Year
- 2007
- Tongue
- English
- Weight
- 165 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0803-5253
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Fabry disease (FD) is an X-chromosomal disorder caused by mutations in the GLA gene encoding the lysosomal enzyme Ξ±-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
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