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Article

A GCH1 haplotype and risk of neural tube defects in the National Birth Defects Prevention Study.

Molecular genetics and metabolism - 1 Nov 2012

Lupo Philip J, Chapa Claudia, Nousome Darryl, Duhon Cody, Canfield Mark A, Shaw Gary M, Finnell Richard H, Zhu Huiping

Abstract excerpt

Tetrahydrobiopterin (BH(4)) is an essential cofactor and an important cellular antioxidant. BH(4) deficiency has been associated with diseases whose etiologies stem from excessive oxidative stress. GTP cyclohydrolase I (GCH1) catalyzes the first and rate-limiting step of de novo BH(4) synthesis. A 3-SNP haplotype in GCH1 (rs8007267, rs3783641, and rs10483639) is known to modulate GCH1 gene expression levels and...

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Identifiers

PMID: 23059057
DOI: 10.1016/j.ymgme.2012.09.020
PMCID: PMC3704723

Genes

GCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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