Original paper

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

Volume: 31, Issue: S2, Pages: 247 - 253
Published: Nov 3, 2008
Abstract
Summary 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 clinical observation...
Paper Details
Title
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
Published Date
Nov 3, 2008
Volume
31
Issue
S2
Pages
247 - 253
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.