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Article

A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death.

Clinica chimica acta; international journal of clinical chemistry - 14 Jan 2011

Ouyang Ping, Saarel Elizabeth, Bai Ying, Luo Chunyan, Lv Qiulun, Xu Yan, Wang Fan, Fan Chun, Younoszai Adel, Chen Qiuyun, Tu Xin, Wang Qing K

Abstract excerpt

BACKGROUND: Mutations in transcription factor NKX2.5 cause congenital heart disease (CHD). We identified a CHD family with atrial septal defects (ASDs), atrioventricular block, ventricular noncompaction, syncope and sudden death. Our objective is to identify the disease-causing mutation in the CHD family. METHODS: Direct DNA sequence analysis was used to identify the CHD mutation. The functional effects of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 20932824
DOI: 10.1016/j.cca.2010.09.035
PMCID: PMC2998397

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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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