Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy.-论文-万方医学网

作者： Kari L,Turkowski ^[1] ; David J,Tester ^[2] ; J Martijn,Bos ^[3] ; Kristina H,Haugaa ^[2] ; Michael J,Ackerman ^[4]

作者单位： Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Rochester, Minnesota, USA. ^[1] Department of Molecular Pharmacology & Experimental Therapeutics; Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, USA. ^[2] Department of Cardiovascular Diseases, Division of Heart Rhythm Services, Mayo Clinic, Rochester, Minnesota, USA. ^[3] Department of Pediatric and Adolescent Medicine, Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, USA. ^[4] Center for Cardiological Innovation, Department of Cardiology, Institute for Surgical Research, Oslo University Hospital, Rikshospitalet, Oslo Norway and University of Oslo, Oslo, Norway. ^[5]

主题词青少年(Adolescent);抗原, CD(Antigens, CD);心律失常性右心室发育不良(Arrhythmogenic Right Ventricular Dysplasia);钙黏着糖蛋白类(Cadherins);计算机模拟(Computer Simulation);DNA突变分析(DNA Mutational Analysis);超声心动描记术(Echocardiography);心电描记术(Electrocardiography);女(雌)性(Female);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);遗传(Heredity);人类(Humans);男(雄)性(Male);Markov链(Markov Chains);中年人(Middle Aged);模型, 遗传学(Models, Genetic);突变(Mutation);系谱(Pedigree);表型(Phenotype);危险因素(Risk Factors);心室功能, 右(Ventricular Function, Right);青年人(Young Adult)

DOI 10.1111/chd.12462

PMID 28326674

发布时间 2017-10-11

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Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy.

Congenital heart disease

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Whole exome sequencing with genomic triangulation implicates CDH2-encoded N-cadherin as a novel pathogenic substrate for arrhythmogenic cardiomyopathy.

Congenital heart disease

相似文献

Congenital heart disease

相关期刊

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