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Article

A common mutation in methylenetetrahydrofolate reductase gene among the Japanese population.

The Japanese journal of human genetics - 1 Jun 1996

Nishio H, Lee M J, Fujii M, Kario K, Kayaba K, Shimada K, Matsuo M, Sumino K

Abstract excerpt

Hyperhomocysteinemia has been reported as an independent risk factor for atherosclerotic cerebrovascular and coronary heart diseases. 5, 10-Methylenetetrahydrofolate reductase (MTHFR) is one of the enzymes responsible for hyperhomocysteinemia. The C to T transition of the MTHFR gene at nucleotide position 677 results in decreasing the enzymatic activity and increasing the plasma homocysteine level. We studied the...

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Source

Identifiers

PMID: 8771990
DOI: 10.1007/BF01875985

Genes

MTHFR

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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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