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Article

The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia.

QJM : monthly journal of the Association of Physicians - 1 Aug 1996

Harmon D L, Woodside J V, Yarnell J W, McMaster D, Young I S, McCrum E E, Gey K F, Whitehead A S, Evans A E

Abstract excerpt

Mild hyperhomocysteinaemia is a major risk factor for vascular disease and neural tube defects (NTDs), conferring an approximately three-fold relative risk for each condition. It has several possible causes: heterozygosity for rare loss of function mutations in the genes for 5,10-methylene tetrahydrofolate reductase (MTHFR) or cystathionine-beta-synthase (CBS); dietary insufficiency of vitamin co-factors B6, B12...

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Source

Identifiers

PMID: 8935478
DOI: 10.1093/qjmed/89.8.571

Genes

MTHFR
CBS

Provenance

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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The common 'thermolabile' variant of methylene tetrahydrofolate reductase is a major determinant of mild hyperhomocysteinaemia.PMID 8935478Read ↗

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Homozygous thermolabile variant of the methylenetetrahydrofolate reductase gene: a potential risk factor for hyperhomocysteinaemia, CVD, and stroke in childhood.Semantic proximity Read ↗

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