Ontology highlight
ABSTRACT:
SUBMITTER: de Alencar DO
PROVIDER: S-EPMC5121364 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
de Alencar Dayse Oliveira DO Netto Cristina C Ashton-Prolla Patricia P Giugliani Roberto R Ribeiro-Dos-Santos Ândrea  Pereira Fernanda F Matte Ursula U Santos Ney N Santos Sidney S
Molecular genetics and metabolism reports 20140926
The Fabry disease is caused by mutations in the gene (<i>GLA</i>) that encodes the enzyme α-galactosidase A (α-Gal A). More than 500 pathologic variants of <i>GLA</i> have already been described, most of them are family-specific. In southern Brazil, a frequent single-base deletion (<i>GLA</i> 30delG) was identified among four families that do not recognize any common ancestral. In order to investigate the history of this mutation (investigate the founder effect, estimate the mutation age and the ...[more]