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    Article

    Multiple transcription start sites and alternative splicing in the methylenetetrahydrofolate reductase gene result in two enzyme isoforms

    Methylenetetrahydrofolate reductase (MTHFR) reduces 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, the major carbon donor in the remethylation of homocysteine to methionine. Mild MTHFR deficiency,...

    Pamela Tran, Daniel Leclerc, Manuel Chan, Aditya Pai, Francois Hiou-Tim in Mammalian Genome (2002)

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    Gene structure of human and mouse methylenetetrahydrofolate reductase (MTHFR)

    Methylenetetrahydrofolate reductase (MTHFR) catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. A human cDNA fo...

    Philippe Goyette, Aditya Pai, Renate Milos, Phyllis Frosst, Pamela Tran in Mammalian Genome (1998)

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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)