5,10-Methylenetetrahydrofolate Reductase Gene Variants and Congenital Anomalies: A HUGE Review

The enzyme 5,10-methylenetetrahydrofolate reductase (MTHFR) is involved in folate metabolism. The MTHFR gene is located on chromosome 1 (1p36.3), and two common alleles, the C677T (thermolabile) allele and the A1298C allele, have been described.

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February 22, 2021