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Article

Methylenetetrahydrofolate reductase (MTHFR) allele frequencies in Amerindians.

Annals of human genetics - 1 Jul 2003

Monsalve M V, Salzano F M, Rupert J L, Hutz M H, Hill K, Hurtado A M, Hochachka P W, Devine D V

Abstract excerpt

Neural tube defects (NTDs) have been associated with abnormalities of folate metabolism. Methylenetetrahydrofolate reductase (MTHFR) is the regulatory enzyme for the conversion of homocysteine to methionine. The C677T mutation in the MTHFR gene affects folate distribution, and homozygosity for the T allele may be associated with an increased risk of NTDs. A second mutation, an A1298C transversion in this same...

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Identifiers

PMID: 12914571
DOI: 10.1046/j.1469-1809.2003.00027.x

Genes

MTHFR

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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