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KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
Kapplinger, Jamie D; Erickson, Anders; Asuri, Sirisha; Tester, David J; McIntosh, Sarah; Kerr, Charles R; Morrison, Julie; Tang, Anthony; Sanatani, Shubhayan; Arbour, Laura; Ackerman, Michael J.
Afiliación
  • Kapplinger JD; Mayo Medical School, Mayo Clinic, Rochester, Minnesota, USA.
  • Erickson A; Department of Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, USA.
  • Asuri S; Division of Medical Sciences, University of Victoria, Victoria, British Columbia, Canada.
  • Tester DJ; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • McIntosh S; Division of Heart Rhythm Services, Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
  • Kerr CR; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
  • Morrison J; Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada.
  • Tang A; Gitxsan Health Society, Hazelton, British Columbia, Canada.
  • Sanatani S; Department of Medicine, University of Western Ontario, London, Ontario, Canada.
  • Arbour L; Division of Cardiology, Department of Pediatrics, University of British Columbia, BC Children's Hospital, Vancouver, British Columbia, Canada.
  • Ackerman MJ; Division of Medical Sciences, University of Victoria, Victoria, British Columbia, Canada.
J Med Genet ; 54(6): 390-398, 2017 06.
Article en En | MEDLINE | ID: mdl-28264985
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Síndrome de Romano-Ward / Canal de Potasio KCNQ1 Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Empalme del ARN / Síndrome de Romano-Ward / Canal de Potasio KCNQ1 Tipo de estudio: Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido