Article
New mutations in the GLA gene in Brazilian families with Fabry disease.
Journal of human genetics - 1 Jun 2012
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
Abstract excerpt
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the diagnosis of the disease, but in female carriers the diagnosis based only on enzyme assays is often inconclusive. In this work, we analyzed 568 individuals from 102 families with suspect of FD....
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