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Article

A common haplotype for the 677T thermolabile variant of the 5,10-methylenetetrahydrofolate reductase gene in thrombophilic patients and controls.

Human mutation - 1 Dec 2002

Linnebank M, Homberger A, Nowak-Göttl U, Koch H G

Abstract excerpt

The common polymorphic transition 677C>T in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene causes a thermolabile enzyme variant. This variant is associated with moderate hyperhomocysteinemia, a risk factor for vascular disease and thrombophilia. Up to now, it remained unclear if the thermolabile MTHFR variant either directly predisposes to vascular disease, or if 677T is only a genetic marker for...

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Source

Identifiers

PMID: 12442281
DOI: 10.1002/humu.9089

Genes

MTHFR

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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