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Research Paper
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
Rou-Mu Hua Department of Cardiology, Heart Center & Beijing Key Laboratory of Hypertension, Beijing Chaoyang Hospital, Capital Medical University, Beijing, China;b Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USAView further author information
, Evelyn J. Songc Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USAView further author information
, David J. Testerd Departments of Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USAView further author information
, Isabelle Deschenese 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, USAView further author information
, Michael J. Ackermand Departments of Medicine, Pediatrics, and Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN, USAView further author information
, Jonathan C. Makielskib Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USAView further author information
& Bi-Hua Tanb Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin, Madison, WI, USA;e 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, USACorrespondence[email protected]
View further author information
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Pages 253-261
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Received 09 Oct 2020, Accepted 08 Jan 2021, Published online: 04 Feb 2021
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