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A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis |
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| Authors: | Rong Xiang Liang-Liang Fan Hao Huang Bei-Bei Cao Xiang-Ping Li Dao-Quan Peng Kun Xia |
| Institution: | 1. Department of Cell Biology, School of Life Sciences, Central South University, Changsha 410013, China;2. State Key Laboratory of Medical Genetics, Central South University, Changsha 410078, China;3. Department of Cardiology, the Second Xiangya Hospital of Central South University, Changsha 410011, China |
| Abstract: | |
| Keywords: | 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 |
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