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Methylenetetrahydrofolate reductase, common polymorphisms, and relation to disease.

Vitamins and hormones - 1 Jan 2008

Thomas Philip, Fenech Michael

Abstract excerpt

Folate plays a key role in maintaining genomic stability and providing methyl groups for the formation of dTMP from dUMP which is required for DNA synthesis and repair and for the maintenance of methylation patterns involving cytosine or specific sites such as CpG islands. Under conditions of low folate, dUMP accumulates producing DNA strand breaks and micronucleus formation as a result of excessive uracil...

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Identifiers

PMID: 18804702
DOI: 10.1016/S0083-6729(08)00413-5

Genes

MTHFR

Variants

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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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