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    Human methylenetetrahydrofolate reductase: isolation of cDNA, map** and mutation identification

    Methylenetetrahydrofolate reductase (MTHFR) catalyses the reduction of methylenetetrahydrofolate to methyltetrahydrofolate, a cofactor for homocysteine methylation to methionine. MTHFR deficiency, an autosomal...

    Philippe Goyette, James S. Sumner, Renate Milos, Alessandra M.V. Duncan… in Nature Genetics (1994)