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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Detalles Bibliográficos
Autores principales: de Alencar, Dayse Oliveira, Netto, Cristina, Ashton-Prolla, Patricia, Giugliani, Roberto, Ribeiro-dos-Santos, Ândrea, Pereira, Fernanda, Matte, Ursula, Santos, Ney, Santos, Sidney
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
The Lysosome
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121364/
https://www.ncbi.nlm.nih.gov/pubmed/27896116
http://dx.doi.org/10.1016/j.ymgmr.2014.09.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121364/
https://www.ncbi.nlm.nih.gov/pubmed/27896116
http://dx.doi.org/10.1016/j.ymgmr.2014.09.002

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