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浏览/检索结果: 共4条，第1-4条 帮助 已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Functional analysis of the congenital heart disease-associated GATA4 H436Y mutation in vitro 期刊论文 MOLECULAR MEDICINE REPORTS, 2019, 卷号: 20, 期号: 3 作者:  Fang, Tao;  Zhu, Yanjie;  Xu, Anlan;  Zhang, Yanli;  Wu, Qingfa 收藏  |  浏览/下载：33/0  |  提交时间：2019/12/05 congenital heart disease  transcription factor  GATA4 gene mutation   A novel mutation of GATA4 (K300T) associated with familial atrial septal defect 期刊论文 GENE, 2016, 卷号: 575, 期号: 2 作者:  Liu, Wei;  Chen, Jia;  Qi, Bingyang;  Zhao, Juan;  Duan, Ranhui 收藏  |  浏览/下载：5/0  |  提交时间：2019/12/05 Ventricular septal defect  Incomplete penetrance  Whole exome sequencing  Post-translational modification  Methylation   A novel mutation of GATA4 (K300T) associated with familial atrial septal defect 期刊论文 Gene, 2015, 卷号: 575, 期号: 2, 页码: 473-477 作者:  Chen, Jia;  Qi, Bingyang;  Zhao, Juan;  Liu, Wei;  Duan, Ranhui* 收藏  |  浏览/下载：9/0  |  提交时间：2019/12/03 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   A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis 期刊论文 Gene, 2014, 卷号: 534, 期号: 2, 页码: 320-323 作者:  Xiang, Rong;  Fan, Liang-Liang;  Huang, Hao;  Cao, Bei-Bei;  Li, Xiang-Ping 收藏  |  浏览/下载：2/0  |  提交时间：2019/12/03 CHD  congenital heart defects  PS  pulmonary valve stenosis  polyphen2  polymorphism phenotyping  SIFT  Sorting Intolerant From Tolerant  dbSNP  Single Nucleotide Polymorphism Database  ASD  atrial septal defect  VSD  ventricular septal defect  TOF  tetralogy of Fallot  HRV  hypoplastic right ventricle  TAPVR  total anomalous pulmonary venous retour  NLS  nuclear localization signals  SNP  single nucleotide polymorphism  PCR  polymerase chain reaction  Congenital heart disease  Atrial septal defect  ASD  GATA4  Transcription factor