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Article

Analysis of the MTHFD1 promoter and risk of neural tube defects.

Human genetics - 1 Apr 2009

Carroll Nicola, Pangilinan Faith, Molloy Anne M, Troendle James, Mills James L, Kirke Peadar N, Brody Lawrence C, Scott John M, Parle-McDermott Anne

Abstract excerpt

Genetic variants in MTHFD1 (5,10-methylenetetrahydrofolate dehydrogenase/5,10-methenyltetrahydrofolate cyclohydrolase/ 10-formyltetrahydrofolate synthetase), an important folate metabolic enzyme, are associated with a number of common diseases, including neural tube defects (NTDs). This study investigates the promoter of the human MTHFD1 gene in a bid to understand how this gene is controlled and regulated....

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Source

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Identifiers

PMID: 19130090
DOI: 10.1007/s00439-008-0616-3
PMCID: PMC2732995

Genes

MTHFD1

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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