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Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.
Faridi, Rabia; Tona, Risa; Brofferio, Alessandra; Hoa, Michael; Olszewski, Rafal; Schrauwen, Isabelle; Assir, Muhammad Z K; Bandesha, Akhtar A; Khan, Asma A; Rehman, Atteeq U; Brewer, Carmen; Ahmed, Wasim; Leal, Suzanne M; Riazuddin, Sheikh; Boyden, Steven E; Friedman, Thomas B.
Afiliación
  • Faridi R; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Tona R; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Brofferio A; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Hoa M; Cardiology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health Clinical Center, Bethesda, Maryland, USA.
  • Olszewski R; Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Schrauwen I; Auditory Development and Restoration Program, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Assir MZK; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Bandesha AA; Allama Iqbal Medical Research Centre, Jinnah Hospital Complex, Lahore, Pakistan.
  • Khan AA; Cardiology Department, The Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Rehman AU; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
  • Brewer C; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
  • Ahmed W; Audiology Unit, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health, Bethesda, Maryland, USA.
  • Leal SM; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Riazuddin S; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Boyden SE; Allama Iqbal Medical Research Centre, Jinnah Hospital Complex, Lahore, Pakistan.
  • Friedman TB; Section on Genetics of Communication Disorders, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.
Hum Mutat ; 40(2): 162-176, 2019 02.
Article en En | MEDLINE | ID: mdl-30461122
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Jervell-Lange Nielsen / Síndrome de Romano-Ward / Canales de Potasio con Entrada de Voltaje / Sordera Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Síndrome de Jervell-Lange Nielsen / Síndrome de Romano-Ward / Canales de Potasio con Entrada de Voltaje / Sordera Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article