Article
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels.
European journal of human genetics : EJHG - 1 Aug 2001
Lievers K J, Kluijtmans L A, Heil S G, Boers G H, Verhoef P, van Oppenraay-Emmerzaal D, den Heijer M, Trijbels F J, Blom H J
Abstract excerpt
Molecular defects in genes encoding enzymes involved in homocysteine metabolism may account for mild hyperhomocysteinaemia, an independent and graded risk factor for cardiovascular disease (CVD). Although heterozygosity for cystathionine beta-synthase (CBS) deficiency has been excluded as a major genetic cause of mild hyperhomocysteinaemia in vascular disease, mutations in (non-)coding DNA sequences may lead to a...
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