Article
Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.
Journal of inherited metabolic disease - 1 Dec 2008
Oliveira J P, Ferreira S, Barceló J, Gaspar P, Carvalho F, Sá Miranda M C, Månsson J-E
Abstract excerpt
BACKGROUND: The α-galactosidase gene (GLA) has three single-nucleotide polymorphisms in the 5' untranslated region of exon 1, respectively g.1150G>A, g.1168G>A, g.1170C>T. The g.1150A allele is associated with increased plasma α-galactosidase (α-Gal) activity in hemizygotes, while the others are regarded as biologically neutral. The primary goal of this investigation was to test the hypothesis, raised by a...
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