𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Identification of new mutations and one polymorphism (D313Y) in patients with Fabry disease

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Five novel mutations in fourteen patient
✍ Kirsten Marie Rosenberg; Raphael Schiffmann; Christine Kaneski; Roscoe O. Brady; πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 20 KB πŸ‘ 2 views

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

Thirty-four novel mutations of the GLA g
✍ Ellen SchΓ€fer; Karin Baron; Urs Widmer; Patrick Deegan; Hartmut P.H. Neumann; Ge πŸ“‚ Article πŸ“… 2005 πŸ› John Wiley and Sons 🌐 English βš– 207 KB

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