Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

Fabry disease: Evidence for a regional founder effect of the GLA gene mutation 30delG in Brazilian patients

The Fabry disease is caused by mutations in the gene (GLA) that encodes the enzyme α-galactosidase A (α-Gal A). More than 500 pathologic variants of GLA have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (GLA 30delG) was identified amon...

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Bibliographic Details
Main Authors: Dayse Oliveira de Alencar, Cristina Netto, Patricia Ashton-Prolla, Roberto Giugliani, Ândrea Ribeiro-dos-Santos, Fernanda Pereira, Ursula Matte, Ney Santos, Sidney Santos
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fabry disease
Founder effect
GLA gene
30delG mutation
Brazil
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000597

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http://www.sciencedirect.com/science/article/pii/S2214426914000597

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