Article
Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.
Circulation - 1 Jan 1996
Jacques P F, Bostom A G, Williams R R, Ellison R C, Eckfeldt J H, Rosenberg I H, Selhub J, Rozen R
Abstract excerpt
BACKGROUND: Methylenetetrahydrofolate reductase (MTHFR) synthesizes 5-methyltetrahydrofolate, the major carbon donor in remethylation of homocysteine to methionine. A common MTHFR mutation, an alanine-to-valine substitution, renders the enzyme thermolabile and may cause elevated plasma levels of...
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