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Article

5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.

American journal of epidemiology - 1 May 2000

Botto L D, Yang Q

Abstract excerpt

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. The population frequency of C677T homozygosity ranges from 1% or less among Blacks from Africa and the United States to 20% or more among Italians and US Hispanics. C677T...

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Identifiers

PMID: 10791559
DOI: 10.1093/oxfordjournals.aje.a010290

Genes

MTHFR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.PMID 10791559Read ↗

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