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Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.
Boczek, Nicole J; Gomez-Hurtado, Nieves; Ye, Dan; Calvert, Melissa L; Tester, David J; Kryshtal, Dmytro; Hwang, Hyun Seok; Johnson, Christopher N; Chazin, Walter J; Loporcaro, Christina G; Shah, Maully; Papez, Andrew L; Lau, Yung R; Kanter, Ronald; Knollmann, Bjorn C; Ackerman, Michael J.
Afiliación
  • Boczek NJ; Department Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.
  • Gomez-Hurtado N; Department of Medicine, Vanderbilt University, Nashville, TN.
  • Ye D; Department Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.
  • Calvert ML; Department Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.
  • Tester DJ; Department Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.
  • Kryshtal D; Department of Medicine, Vanderbilt University, Nashville, TN.
  • Hwang HS; Department of Medicine, Vanderbilt University, Nashville, TN.
  • Johnson CN; Departments of Biochemistry & Chemistry and Center for Structural Biology, Vanderbilt University, Nashville, TN.
  • Chazin WJ; Departments of Biochemistry & Chemistry and Center for Structural Biology, Vanderbilt University, Nashville, TN.
  • Loporcaro CG; Department Molecular Pharmacology & Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN.
  • Shah M; Mayo Medical School, Mayo Clinic, Rochester, MN.
  • Papez AL; Children's Hospital of Philadelphia, Philadelphia, PA.
  • Lau YR; Department of Pediatric Cardiology, Phoenix Children's Hospital, Phoenix, AZ.
  • Kanter R; Department of Pediatrics, Division of Pediatric Cardiology, University of Alabama at Birmingham, Birmingham, AL.
  • Knollmann BC; Division of Cardiology, Nicklaus Children's Hospital, Miami, FL.
  • Ackerman MJ; Department of Medicine, Vanderbilt University, Nashville, TN.
Circ Cardiovasc Genet ; 9(2): 136-146, 2016 Apr.
Article en En | MEDLINE | ID: mdl-26969752

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de QT Prolongado / Calmodulina / Mutación Missense Tipo de estudio: Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Circ Cardiovasc Genet Asunto de la revista: ANGIOLOGIA / CARDIOLOGIA / GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Mongolia

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Síndrome de QT Prolongado / Calmodulina / Mutación Missense Tipo de estudio: Prevalence_studies / Prognostic_studies / Risk_factors_studies Límite: Adult / Animals / Female / Humans / Male Idioma: En Revista: Circ Cardiovasc Genet Asunto de la revista: ANGIOLOGIA / CARDIOLOGIA / GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Mongolia