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

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 ide...

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Veröffentlicht in:	PloS one 2016-07, Vol.11 (7), p.e0158904-e0158904
Hauptverfasser:	Zhang, Xiaoqing, Wang, Jian, Wang, Bo, Chen, Sun, Fu, Qihua, Sun, Kun
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution Amino acids Asian Continental Ancestry Group - genetics Basic Helix-Loop-Helix Transcription Factors - genetics Bioinformatics Biology and Life Sciences Birth defects Cardiology Cardiomyocytes Cardiovascular disease Cardiovascular diseases Congenital defects Congenital diseases Congenital heart defects Coronary artery disease Defects Deoxyribonucleic acid DNA Families & family life Family Family medical history Female GATA4 Transcription Factor - genetics Gene mutation Genes Genetic aspects Heart Heart Defects, Congenital - genetics Heart diseases Homeobox Protein Nkx-2.5 - genetics Humans Laboratories Localization Male Medicine Medicine and Health Sciences Missense mutation Morbidity Morphogenesis Mutation Mutation, Missense Nkx2.5 protein Patients Pediatrics Pedigree Physical Sciences Physiological aspects Proteins Research and Analysis Methods Risk factors Xenopus
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