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Article

Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects.

Journal of human genetics - 1 Jan 2003

Parle-McDermott Anne, Mills James L, Kirke Peadar N, O'Leary Valerie B, Swanson Deborah A, Pangilinan Faith, Conley Mary, Molloy Anne M, Cox Christopher, Scott John M, Brody Lawrence C

Abstract excerpt

The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A-->C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A-->C. Our findings do not support a role for...

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Source

Identifiers

PMID: 12730722
DOI: 10.1007/s10038-003-0008-4

Genes

MTHFR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects.PMID 12730722Read ↗

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