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Article

Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects.

Clinical genetics - 1 Mar 2003

Rampersaud E, Melvin E C, Siegel D, Mehltretter L, Dickerson M E, George T M, Enterline D, Nye J S, Speer M C

Abstract excerpt

Folate supplementation appears to reduce the risk for neural tube defects (NTDs). Methylenetetrahydrofolate reductase (MTHFR) is a candidate gene in the folate metabolism pathway that has been extensively studied in different human populations. We examined the risk associated with having the thermolabile variant (TT) of MTHFR in a study of 175 American Caucasians with NTDs and their families. We found a...

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Identifiers

PMID: 12694231
DOI: 10.1034/j.1399-0004.2003.00043.x

Genes

MTHFR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Updated investigations of the role of methylenetetrahydrofolate reductase in human neural tube defects.PMID 12694231Read ↗

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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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MTHFR 677C-->T and 1298A-->C polymorphisms: evaluation of maternal genotypic risk and association with level of neural tube defect.Semantic proximity Read ↗

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