Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.

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作者： Rene L,Begay ^[1] ; Sharon L,Graw ^[1] ; Gianfranco,Sinagra ^[2] ; Angeliki,Asimaki ^[3] ; Teisha J,Rowland ^[1] ; Dobromir B,Slavov ^[1] ; Katherine,Gowan ^[4] ; Kenneth L,Jones ^[4] ; Francesca,Brun ^[2] ; Marco,Merlo ^[2] ; Daniela,Miani ^[5] ; Mary,Sweet ^[1] ; Kalpana,Devaraj ^[6] ; Eric P,Wartchow ^[7] ; Marta,Gigli ^[2] ; Ilaria,Puggia ^[2] ; Ernesto E,Salcedo ^[1] ; Deborah M,Garrity ^[8] ; Amrut V,Ambardekar ^[1] ; Peter,Buttrick ^[1] ; T Brett,Reece ^[9] ; Michael R,Bristow ^[1] ; Jeffrey E,Saffitz ^[3] ; Luisa,Mestroni ^[1] ; Matthew R G,Taylor ^[10]

作者单位： Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Denver, Aurora, Colorado. ^[1] Department of Cardiology, Ospedali Riuniti and University of Trieste, Trieste, Italy. ^[2] Department of Pathology, Beth Israel Deaconess Medical Center & Harvard Medical School, Boston, Massachusetts. ^[3] Department of Pediatrics, Section of Hematology, Oncology, and Bone Marrow Transplant, University of Colorado Denver, Aurora, Colorado. ^[4] Department of Cardiothoracic Science, University Hospital S. Maria della Misericordia, Udine, Italy. ^[5] Department of Pathology, University of Colorado, University Hospital, Aurora, Colorado. ^[6] Department of Pathology, Children's Hospital Colorado, Aurora, Colorado. ^[7] Center for Cardiovascular Research and Department of Biology, Colorado State University, Fort Collins, Colorado. ^[8] Department of Surgery, University of Colorado Denver, Aurora, Colorado. ^[9] Cardiovascular Institute and Adult Medical Genetics Program, University of Colorado Denver, Aurora, Colorado. Electronic address: matthew.taylor@ucdenver.edu. ^[10]

关键词 Filamin C arrhythmias arrhythmogenic dilated cardiomyopathy cardiovascular genetics familial dilated cardiomyopathy heart failure

主题词心律失常, 心性(Arrhythmias, Cardiac);心肌病, 扩张型(Cardiomyopathy, Dilated);细胞黏附(Cell Adhesion);DNA突变分析(DNA Mutational Analysis);欧洲(Europe);人类(Humans);免疫组织化学(Immunohistochemistry);突变(Mutation);心肌(Myocardium);多态性, 单核苷酸(Polymorphism, Single Nucleotide);前瞻性研究(Prospective Studies);美国(United States)

DOI 10.1016/j.jacep.2017.12.003

PMID 30067491

发布时间 2024-06-10

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JACC. Clinical electrophysiology

2018年4卷4期

504-514页

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Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.

JACC. Clinical electrophysiology

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JACC. Clinical electrophysiology

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Filamin C Truncation Mutations Are Associated With Arrhythmogenic Dilated Cardiomyopathy and Changes in the Cell-Cell Adhesion Structures.

JACC. Clinical electrophysiology

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JACC. Clinical electrophysiology

相关期刊

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