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Article

Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease.

Journal of medical genetics - 1 Sept 2004

Reamon-Buettner S M, Borlak J

Abstract excerpt

NKX2-5 is a pivotal transcription factor in heart development. Previous studies on lymphocytic DNA provided evidence of familial NKX2-5 gene mutations in cardiac malformations. Common mutations are rare in unrelated families. We analysed, by direct sequencing, the gene encoding NKX2-5 in the diseased heart tissues of 68 patients with complex congenital heart disease, focussing particularly on atrial, ventricular,...

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Share to Base Sequence
Share to Chromosomes, Human, Pair 5
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Heart Defects, Congenital

Share to Homeobox Protein Nkx-2.5

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Source

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Identifiers

PMID: 15342699
DOI: 10.1136/jmg.2003.017483
PMCID: PMC1735891

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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