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Article

Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects.

Clinical chemistry and laboratory medicine - 1 Mar 2003

Storti Simona, Vittorini Simona, Iascone Maria R, Sacchelli Monica, Collavoli Anita, Ripoli Andrea, Cocchi Guido, Biagini Andrea, Clerico Aldo

Abstract excerpt

Reports related some polymorphisms of the 5,10-methylenetetrahydrofolate reductase (MTHFR) to folate-dependent neural tube defects. In view of the common origin of the cells involved both in neural tube closure and heart septation, we analyzed the MTHFR C677T and A1298C polymorphisms in mothers o...

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Source

Identifiers

PMID: 12705333
DOI: 10.1515/CCLM.2003.043

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12705333-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

Related research

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Association between 5,10-methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and conotruncal heart defects.PMID 12705333Read ↗

Association of MTHFR A1298C polymorphism with conotruncal heart disease.Semantic proximity Read ↗

Methylenetetrahydrofolate reductase C677T and reduced folate carrier 80 G>A polymorphisms are associated with an increased risk of conotruncal heart defects.Semantic proximity Read ↗

The A1298C Methylenetetrahydrofolate Reductase Gene Variant as a Susceptibility Gene for Non-Syndromic Conotruncal Heart Defects in an Indian Population.Semantic proximity Read ↗

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Analysis of MTHFR 1298A>C in addition to MTHFR 677C>T polymorphism as a risk factor for neural tube defects in the Turkish population.Semantic proximity Read ↗

Gene-gene interactions in the folate metabolic pathway and the risk of conotruncal heart defects.Semantic proximity Read ↗

Gene-Folic Acid Interactions and Risk of Conotruncal Heart Defects: Results from the National Birth Defects Prevention Study.Semantic proximity Read ↗

Variants of folate metabolism genes and the risk of conotruncal cardiac defects.Semantic proximity Read ↗

Polymorphisms of 5,10-methylenetetrahydrofolate reductase and cystathionine beta-synthase genes as a risk factor for neural tube defects in Sétif, Algeria.Semantic proximity Read ↗

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A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.Semantic proximity Read ↗

Gene variants in the folate-mediated one-carbon metabolism (FOCM) pathway as risk factors for conotruncal heart defects.Semantic proximity Read ↗

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