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Hu RM, Song EJ, Tester DJ, et al. 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. Channels (Austin). 2021;15(1):253-261doi: 10.1080/19336950.2021.1875645.
Hu, R. M., Song, E. J., Tester, D. J., Deschenes, I., Ackerman, M. J., Makielski, J. C., & Tan, B. H. (2021). 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. Channels (Austin, Tex.), 15(1), 253-261. https://doi.org/10.1080/19336950.2021.1875645
Hu, Rou-Mu, et al. "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." Channels (Austin, Tex.) vol. 15,1 (2021): 253-261. doi: https://doi.org/10.1080/19336950.2021.1875645
Hu RM, Song EJ, Tester DJ, Deschenes I, Ackerman MJ, Makielski JC, Tan BH. 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. Channels (Austin). 2021 Dec;15(1):253-261. doi: 10.1080/19336950.2021.1875645. PMID: 33535892; PMCID: PMC7872018.
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Channels (Austin). 2021 Dec;15(1):253-261. doi: 10.1080/19336950.2021.1875645.

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.

Channels (Austin, Tex.)

Rou-Mu Hu, Evelyn J Song, David J Tester, Isabelle Deschenes, Michael J Ackerman, Jonathan C Makielski, Bi-Hua Tan

Affiliations

  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.

PMID: 33535892 PMCID: PMC7872018 DOI: 10.1080/19336950.2021.1875645

[No abstract available.]

Keywords: SCN5A; common polymorphism; mexiletine; splice variant

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