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
Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene
β Scribed by L Ferri; C Guido; G la Marca; S Malvagia; C Cavicchi; A Fiumara; R Barone; R Parini; D Antuzzi; C Feliciani; A Zampetti; R Manna; S Giglio; CM Della Valle; X Wu; KJ Valenzano; ER Benjamin; MA Donati; R Guerrini; M Genuardi; A Morrone
- Book ID
- 110889268
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 714 KB
- Volume
- 81
- Category
- Article
- ISSN
- 0009-9163
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Fabry disease, an X -linked inborn error of glycosphingolipid catabolism, results from mutations in the Ξ±-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