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Article

Targeted insertion of two Mthfr promoters in mice reveals temporal- and tissue-specific regulation.

Mammalian genome : official journal of the International Mammalian Genome Society - 1 Dec 2011

Pickell Laura, Wu Qing, Wang Xiao-Ling, Leclerc Daniel, Friedman Hana, Peterson Alan C, Rozen Rima

Abstract excerpt

Methylenetetrahydrofolate reductase (MTHFR), a key enzyme in folate metabolism, synthesizes 5-methyltetrahydrofolate, the main circulatory form of folate which is required for maintaining nontoxic levels of homocysteine and providing one-carbon units for methylation. A common 677C → T variant in MTHFR confers mild MTHFR deficiency and has been associated with a number of human disorders, including neural tube...

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Source

Identifiers

PMID: 21769670
DOI: 10.1007/s00335-011-9351-5

Genes

MTHFR

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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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