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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 th...

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Source

Identifiers

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

Genes

MTHFR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12914571-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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