Article
Genetic defects as important factors for moderate hyperhomocysteinemia.
Clinical chemistry and laboratory medicine - 1 Aug 2001
Geisel J, Zimbelmann I, Schorr H, Knapp J P, Bodis M, Hübner U, Herrmann W
Abstract excerpt
The genes for the enzymes methylenetetrahydrofolate reductase (MTHFR), methionine synthase (MS), methionine synthase reductase (MSR) and cytathionine-beta-synthase (CBS) play an important role in homocysteine metabolism. Rare mutations in these genes cause severe hyperhomocysteinemia and clinical symptoms. Growing interest has focused on common mutations with moderate effects on homocysteine levels. We studied...
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