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Article

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.

Molecular genetics and metabolism - 1 Jul 1998

Weisberg I, Tran P, Christensen B, Sibani S, Rozen R

Abstract excerpt

A common mutation in methylenetetrahydrofolate reductase (MTHFR), C677T, results in a thermolabile variant with reduced activity. Homozygous mutant individuals (approximately 10% of North Americans) are predisposed to mild hyperhomocysteinemia, when their folate status is low. This genetic-nutrient interactive effect is believed to increase the risk for neural tube defects and vascular disease. In this...

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Source

Identifiers

PMID: 9719624
DOI: 10.1006/mgme.1998.2714

Genes

MTHFR

Variants

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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A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity.PMID 9719624Read ↗

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

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The Implication of a Polymorphism in the Methylenetetrahydrofolate Reductase Gene in Homocysteine Metabolism and Related Civilisation DiseasesSemantic proximity Read ↗

Thermolabile variant of 5,10-methylenetetrahydrofolate reductase associated with low red-cell folates: implications for folate intake recommendations.Semantic proximity Read ↗

Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria.Semantic proximity Read ↗

The thermolabile variant 677C-->T can further reduce activity when expressed in cis with severe mutations for human methylenetetrahydrofolate reductase.Semantic proximity Read ↗

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Methylenetetrahydrofolate reductase, common polymorphisms, and relation to disease.Semantic proximity Read ↗

The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels.Semantic proximity Read ↗

Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences.Semantic proximity Read ↗

MTHFR 677C-->T mutation, folate intake, neural-tube defect, and risk of cardiovascular disease.Semantic proximity Read ↗

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