Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R-Reference-Cited by-同舟云学术

Expression defect of the rare variant/Brugada mutation R1512W depends upon the SCN5A splice variant background and can be rescued by mexiletine and the common polymorphism H558R

Published:2021-01-01 Issue:1 Volume:15 Page:253-261
ISSN:1933-6950
Container-title:Channels
language:en
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Author:

Hu Rou-Mu¹²,Song Evelyn J.³,Tester David J.⁴,Deschenes Isabelle⁵,Ackerman Michael J.⁴,Makielski Jonathan C.²,Tan Bi-Hua²⁵

Affiliation:

1. Department of Cardiology, Heart Center & Beijing Key Laboratory of Hypertension, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China

2. Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USA

3. Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA

4. Departments of Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USA

5. Department of Physiology and Cell Biology, The Dorothy M. Davis Heart and Lung Research Institute, Frick Center for Heart Failure and Arrhythmia, the Ohio State University, Columbus, OH, USA

Funder

the National Natural Science Foundation

American Heart Association

National Heart, Lung, and Blood Institute

Beijing Hospitals Authority Youth Programme

Publisher

Informa UK Limited

Subject

Biochemistry,Biophysics

Link

https://www.tandfonline.com/doi/pdf/10.1080/19336950.2021.1875645

Reference33 articles.