Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of a-galactosidase A. The molecular defects of human a-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the ge
Identification of a novel de novo mutation (G373D) in the α-galactosidase A gene (GLA) in a patient affected with Fabry disease
✍ Scribed by Dominique P. Germain; Dominique Salard; Florence Fellmann; Kemal Azibi; Catherine Caillaud; Marie-Charlotte Bernard; Livia Poenaru
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 19 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
- DOI
- 10.1002/humu.41
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