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Article

Promoter haplotype combinations of the platelet-derived growth factor alpha-receptor gene predispose to human neural tube defects.

Nature genetics - 1 Feb 2001

Joosten P H, Toepoel M, Mariman E C, Van Zoelen E J

Abstract excerpt

Neural tube defects (NTDs), including anencephaly and spina bifida, are multifactorial diseases that occur with an incidence of 1 in 300 births in the United Kingdom. Mouse models have indicated that deregulated expression of the gene encoding the platelet-derived growth factor alpha-receptor (Pdgfra) causes congenital NTDs (refs. 2-4), whereas mutant forms of Pax-1 that have been associated with NTDs cause...

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Share to Haplotypes
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Share to Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Polymorphism, Single-Stranded Conformational

Share to Promoter Regions, Genetic

Share to Receptor, Platelet-Derived Growth Factor alpha

Share to Sequence Analysis, DNA

Share to Spinal Dysraphism

Source

Identifiers

PMID: 11175793
DOI: 10.1038/84867

Genes

PDGFRA

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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