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Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.
Rehman, Atteeq U; Santos-Cortez, Regie Lyn P; Morell, Robert J; Drummond, Meghan C; Ito, Taku; Lee, Kwanghyuk; Khan, Asma A; Basra, Muhammad Asim R; Wasif, Naveed; Ayub, Muhammad; Ali, Rana A; Raza, Syed I; Nickerson, Deborah A; Shendure, Jay; Bamshad, Michael; Riazuddin, Saima; Billington, Neil; Khan, Shaheen N; Friedman, Penelope L; Griffith, Andrew J; Ahmad, Wasim; Riazuddin, Sheikh; Leal, Suzanne M; Friedman, Thomas B.
Afiliação
  • Rehman AU; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
  • Santos-Cortez RL; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Morell RJ; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
  • Drummond MC; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
  • Ito T; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
  • Lee K; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
  • Khan AA; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.
  • Basra MA; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.
  • Wasif N; Center for Research in Molecular Medicine, Institute of Molecular Biology and Biotechnology, The University of Lahore, Lahore 54000, Pakistan.
  • Ayub M; Institute of Biochemistry, University of Baluchistan, Quetta 87300, Pakistan.
  • Ali RA; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.
  • Raza SI; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad 45320, Pakistan.
  • Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Bamshad M; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
  • Riazuddin S; Division of Pediatric Otolaryngology - Head and Neck Surgery, Cincinnati Children's Research Foundation, Cincinnati, OH 45229 USA; Department of Otolaryngology - Head and Neck Surgery, College of Medicine, University of Cincinnati, Cincinnati, OH 45267, USA.
  • Billington N; Laboratory of Molecular Physiology, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Khan SN; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan.
  • Friedman PL; Clinical Center, National Institutes of Health, Bethesda, MD 20892, USA.
  • Griffith AJ; Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA.
  • Ahmad W; Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad 45320, Pakistan.
  • Riazuddin S; Centre of Excellence in Molecular Biology, University of the Punjab, Lahore 54500, Pakistan; Allama Iqbal Medical College and Jinnah Hospital Complex, University of Health Sciences, Lahore 54550, Pakistan.
  • Leal SM; Center for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: sleal@bcm.edu.
  • Friedman TB; Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD 20850, USA. Electronic address: friedman@nidcd.nih.gov.
Am J Hum Genet ; 94(1): 144-52, 2014 Jan 02.
Article em En | MEDLINE | ID: mdl-24387994
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Epilepsia / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Epilepsia / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Hum Genet Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos