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	A novel mutation of GATA4 (K300T) associated with familial atrial septal defect
	Chen, Jia; Qi, Bingyang; Zhao, Juan; Liu, Wei; Duan, Ranhui*; Zhang, Mingqiu
刊名	Gene
	2015
卷号	575期号:2页码:473-477
关键词	CHD congenital heart diseases ToF tetralogy of Fallot ASD atrial septal defect VSD ventricular septal defect AVSD atrioventricular septal defect DCM dilated cardiomyopathy HGMD human gene mutation database dbSNP database of Single Nucleotide Polymorphisms EVSD Exome Variant Server Database NLS nuclear localization signal SNP Single nucleotide polymorphism GATK Genome Analysis Toolkit PolyPhen-2 Polymorphism Phenotyping v2 SIFT Sorting Intolerant From Tolerant TAD transcription activation domain N-Znf N-terminal zinc finger C-Znf C-terminal zinc finger Ventricular septal defect Incomplete penetrance Whole exome sequencing Post-translational modification Methylation
ISSN号	0378-1119
DOI	10.1016/j.gene.2015.09.021
URL标识	查看原文
WOS记录号	WOS:000366537600013
内容类型	期刊论文
URI标识	http://www.corc.org.cn/handle/1471x/3321649
专题	中南大学
作者单位	1.[Liu, Wei 2.Zhao, Juan 3.Chen, Jia 4.Duan, Ranhui] Cent S Univ, State Key Lab Med Genet, Changsha 410008, Hunan, Peoples R China.
推荐引用方式 GB/T 7714	Chen, Jia,Qi, Bingyang,Zhao, Juan,et al. A novel mutation of GATA4 (K300T) associated with familial atrial septal defect[J]. Gene,2015,575(2):473-477.
APA	Chen, Jia,Qi, Bingyang,Zhao, Juan,Liu, Wei,Duan, Ranhui*,&Zhang, Mingqiu.(2015).A novel mutation of GATA4 (K300T) associated with familial atrial septal defect.Gene,575(2),473-477.
MLA	Chen, Jia,et al."A novel mutation of GATA4 (K300T) associated with familial atrial septal defect".Gene 575.2(2015):473-477.

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