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Article

5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects.

American journal of medical genetics - 28 Jun 1996

Ou C Y, Stevenson R E, Brown V K, Schwartz C E, Allen W P, Khoury M J, Rozen R, Oakley G P, Adams M J

Abstract excerpt

Persons with a thermolabile form of the enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) have reduced enzyme activity and increased plasma homocysteine which can be lowered by supplemental folic acid. Thermolability of the enzyme has recently been shown to be caused by a common mutation (6...

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Source

Identifiers

PMID: 8826441
DOI: 10.1002/(SICI)1096-8628(19960628)63:4<610::AID-AJMG15>3.0.CO;2-L

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8826441-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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5,10 Methylenetetrahydrofolate reductase genetic polymorphism as a risk factor for neural tube defects.PMID 8826441Read ↗

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Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects.Semantic proximity Read ↗

Low blood folates in NTD pregnancies are only partly explained by thermolabile 5,10-methylenetetrahydrofolate reductase: low folate status alone may be the critical factor.Semantic proximity Read ↗

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