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Article

A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.

The Journal of thoracic and cardiovascular surgery - 1 Sept 2010

Chen Yu, Han Zeng-Qiang, Yan Wei-Dong, Tang Chu-Zhong, Xie Ji-Yan, Chen Hong, Hu Da-Yi

Abstract excerpt

OBJECTIVE: Atrial septal defect (ASD) is a common congenital heart disease (CHD). Although most cases are sporadic, familial cases have been reported. The transcription factors NKX2.5 and GATA4 play important roles in the pathogenesis of ASD. Mutations in either gene have been identified in familial cases of ASD. Here, we examine a Chinese family with isolated ASD to find out whether there is any mutation in...

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Source

Identifiers

PMID: 20347099
DOI: 10.1016/j.jtcvs.2010.01.013

Genes

GATA4

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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