Article
Increased resistance to malaria in mice with methylenetetrahydrofolate reductase (Mthfr) deficiency suggests a mechanism for selection of the MTHFR 677C>T (c.665C>T) variant.
Human mutation - 1 May 2014
Meadows Danielle N, Pyzik Michal, Wu Qing, Torre Sabrina, Gros Philippe, Vidal Silvia M, Rozen Rima
Abstract excerpt
The polymorphism 677C>T (NM_005957.4:c.665C>T/p.Ala222Val, rs1801133:C>T) in methylenetetrahydrofolate reductase (MTHFR) results in mild enzymatic deficiency and increased risk for several complex traits including adverse reproductive outcomes, birth defects, and heart disease. Despite these dele...
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