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Article

A known functional polymorphism (Ile120Val) of the human PCMT1 gene and risk of spina bifida.

Molecular genetics and metabolism - 1 Jan 2006

Zhu Huiping, Yang Wei, Lu Wei, Zhang Jing, Shaw Gary M, Lammer Edward J, Finnell Richard H

Abstract excerpt

Folate binding protein 1 (Folr1) knockout mice with low maternal folate concentrations have been shown to be excellent animal models for human folate-responsive neural tube defects (NTDs). Previous studies using the Folr1 knockout mice revealed that maternal folate supplementation up-regulates the expression of the PCMT1 gene in Folr1 nullizygous neural tube tissue during neural tube closure. PCMT1 encodes the...

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Source

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Identifiers

PMID: 16256389
DOI: 10.1016/j.ymgme.2005.09.008
PMCID: PMC2947858

Genes

PCMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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