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Article

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

American journal of medical genetics. Part A - 1 May 2012

Zhu Huiping, Yang Wei, Lu Wei, Etheredge Analee J, Lammer Edward J, Finnell Richard H, Carmichael Suzan L, Shaw Gary M

Abstract excerpt

We evaluated 35 variants among four folate-mediated one-carbon metabolism pathway genes, MTHFD1, SHMT1, MTHFR, and DHFR as risk factors for conotruncal heart defects. Cases with a diagnosis of single gene disorders or chromosomal aneusomies were excluded. Controls were randomly selected from area hospitals in proportion to their contribution to the total population of live-born infants. Odds ratios (OR) and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22495907
DOI: 10.1002/ajmg.a.35313
PMCID: PMC3331895

Genes

MTHFR
MTHFD1
DHFR
SHMT1

Provenance

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