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Genotype-phenotype correlations
Original article
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1

Authors

  • Jamie D Kapplinger Mayo Medical School, Mayo Clinic, Rochester, Minnesota, USA Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, USA PubMed articlesGoogle scholar articles
  • Anders Erickson Division of Medical Sciences, University of Victoria, Victoria, British Columbia, Canada PubMed articlesGoogle scholar articles
  • Sirisha Asuri Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada PubMed articlesGoogle scholar articles
  • David J Tester Division of Heart Rhythm Services, Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA PubMed articlesGoogle scholar articles
  • Sarah McIntosh Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada PubMed articlesGoogle scholar articles
  • Charles R Kerr Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada PubMed articlesGoogle scholar articles
  • Julie Morrison Gitxsan Health Society, Hazelton, British Columbia, Canada PubMed articlesGoogle scholar articles
  • Anthony Tang Department of Medicine, University of Western Ontario, London, Ontario, Canada PubMed articlesGoogle scholar articles
  • Shubhayan Sanatani Division of Cardiology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada PubMed articlesGoogle scholar articles
  • Laura Arbour Division of Medical Sciences, University of Victoria, Victoria, British Columbia, Canada Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada PubMed articlesGoogle scholar articles
  • Michael J Ackerman Mayo Medical School, Mayo Clinic, Rochester, Minnesota, USA Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, USA Division of Heart Rhythm Services, Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA Division of Pediatric Cardiology, Department of Pediatrics, Mayo Clinic, Rochester, Minnesota, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Laura Arbour, UBC Department of Medical Genetics, and the Island Medical Program, Medical Sciences Building, Rm 104, 3800 Finnerty Rd, University of Victoria, Victoria, British Columbia, Canada V8P 5C2; larbour{at}uvic.ca
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Citation

Kapplinger JD, Erickson A, Asuri S, et al
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1
Journal of Medical Genetics 2017;54:390-398.

Publication history

  • Received July 7, 2016
  • Revised November 30, 2016
  • Accepted December 19, 2016
  • First published March 6, 2017.
Online issue publication 
May 26, 2017

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/ This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/