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Article

Polymorphisms in the methylenetetrahydrofolate reductase gene: clinical consequences.

American journal of pharmacogenomics : genomics-related research in drug development and clinical practice - 1 Jan 2001

Schwahn B, Rozen R

Abstract excerpt

5,10-Methylenetetrahydrofolate reductase (MTHFR) plays a key role in folate metabolism by channeling one-carbon units between nucleotide synthesis and methylation reactions. Severe enzyme deficiency leads to hyperhomocysteinemia and homocystinuria, with altered folate distribution and a phenotype that is characterized by damage to the nervous and vascular systems. Two frequent polymorphisms in the human MTHFR...

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Source

Identifiers

PMID: 12083967
DOI: 10.2165/00129785-200101030-00004

Genes

MTHFR

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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