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Article

Association of congenital cardiac defects and the C677T methylenetetrahydrofolate reductase polymorphism.

Prenatal diagnosis - 1 Aug 2007

Wintner Sonja, Hafner Erich, Stonek Felix, Stuempflen Ingrid, Metzenbauer Martin, Philipp Karl

Abstract excerpt

OBJECTIVE: MTHFR C677T polymorphism and hyperhomocysteinemia have been associated with congenital malformations of the heart and neural tube defects. A common missense mutation in the MTHFR gene (C to T substitution at position 677) produces a variant with reduced enzymatic action. The aim of this retrospective case control study was to investigate whether the occurrence of the MTHFR polymorphism is increased in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Heart Defects, Congenital

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Share to Methylenetetrahydrofolate Reductase (NADPH2)

Share to Mutation, Missense

Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 17510921
DOI: 10.1002/pd.1761

Genes

MTHFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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