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Article

Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations.

The American journal of pathology - 1 Jun 2004

Reamon-Buettner Stella Marie, Hecker Hartmut, Spanel-Borowski Katharina, Craatz Steffen, Kuenzel Eberhard, Borlak Juergen

Abstract excerpt

NKX2-5 is a homeodomain-containing transcription factor important in cardiac development. Familial mutations in the NKX2-5 gene are associated with cardiac abnormalities, but mutations are rare in sporadic cases. We studied the pathology and molecular genetics of NKX2-5 in diseased heart tissues of 68 patients with complex congenital heart disease (CHD), particularly atrial (ASD), ventricular (VSD), and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 15161646
DOI: 10.1016/S0002-9440(10)63770-4
PMCID: PMC1615780

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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