Article
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease.
American journal of human genetics - 1 Jan 1996
Kluijtmans L A, van den Heuvel L P, Boers G H, Frosst P, Stevens E M, van Oost B A, den Heijer M, Trijbels F J, Rozen R, Blom H J
Abstract excerpt
Mild hyperhomocysteinemia is an established risk factor for cardiovascular disease. Genetic aberrations in the cystathionine beta-synthase (CBS) and methylenetetrahydrofolate reductase (MTHFR) genes may account for reduced enzyme activities and elevated plasma homocysteine levels. In 15 unrelated Dutch patients with homozygous CBS deficiency, we observed the 833T-->C (I278T) mutation in 50% of the alleles. Very...
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