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A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease

8 Jul 2016

Abstract excerpt

BACKGROUND: Congenital heart disease (CHD) is the most prevalent type of birth defect in human, with high morbidity in infant. Several genes essential for heart development have been identified. GATA4 is a pivotal transcription factor that can regulate the cardiac development. Many GATA4 mutations have been identified in patients with different types of CHD. AIMS: In this study, the NKX2-5, HAND1 and GATA4 coding...

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PMID: 27391137
DOI: 10.1371/journal.pone.0158904

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