The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study.

Abstract excerpt

Subnormal leukocyte α-galactosidase (α-Gal) activity was found during evaluation of an adolescent male with cryptogenic cerebrovascular small-vessel disease. The only molecular abnormality found was the g.1170C>T single-nucleotide polymorphism (SNP) in the 5' untranslated region of exon 1 in the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to 5' Untranslated Regions
• Share to alpha-Galactosidase
• Share to Blotting, Western