New mutations in the GLA gene in Brazilian families with Fabry disease
✍ Scribed by Turaça, Lauro Thiago; Pessoa, Juliana Gilbert; Motta, Fabiana Louise; Muñoz Rojas, Maria Verônica; Müller, Karen Barbosa; Lourenço, Charles Marques; Junior Marques, Wilson; D'Almeida, Vania; Martins, Ana Maria; Pesquero, João Bosco
- Book ID
- 111652685
- Publisher
- Nature Publishing Group
- Year
- 2012
- Tongue
- English
- Weight
- 252 KB
- Volume
- 57
- Category
- Article
- ISSN
- 1435-232X
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Fabry disease (FD) is an X-chromosomal disorder caused by mutations in the GLA gene encoding the lysosomal enzyme α-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 is an X-linked recessive inborn metabolic disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (EC 3.2.1.22). The causative mutations are diverse, include both large rearrangements and single-base substitutions, and are dispersed throughout the 7 exons of the a