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Article

Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida.

American journal of medical genetics. Part A - 1 Jun 2003

Morin Isabelle, Platt Robert, Weisberg Ilan, Sabbaghian Nelly, Wu Qing, Garrow Timothy A, Rozen Rima

Abstract excerpt

Neural tube defects (NTD) are common malformations resulting from incomplete closure of the neural tube in the first month after conception. Since genetic deficiencies in folate-dependent homocysteine metabolism have been identified in NTD families, we investigated a common variant in betaine-homocysteine methyltransferase (BHMT), 742G-->A (R239Q), as a genetic modifier of NTD risk. Genotypes, nutrient levels,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12749058
DOI: 10.1002/ajmg.a.20115

Genes

BHMT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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