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Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Ravesh, Zeinab; El Asrag, Mohammed E; Weisschuh, Nicole; McKibbin, Martin; Reuter, Peggy; Watson, Christopher M; Baumann, Britta; Poulter, James A; Sajid, Sundus; Panagiotou, Evangelia S; O'Sullivan, James; Abdelhamed, Zakia; Bonin, Michael; Soltanifar, Mehdi; Black, Graeme C M; Amin-ud Din, Muhammad; Toomes, Carmel; Ansar, Muhammad; Inglehearn, Chris F; Wissinger, Bernd; Ali, Manir.
Afiliación
  • Ravesh Z; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan ; Molecular Genetics Laboratory, Institute of Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • El Asrag ME; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK ; Department of Zoology, Faculty of Science, Benha University, Benha, Egypt.
  • Weisschuh N; Molecular Genetics Laboratory, Institute of Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • McKibbin M; The Eye Department, St. James's University Hospital, Leeds, UK.
  • Reuter P; Molecular Genetics Laboratory, Institute of Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • Watson CM; Yorkshire Regional Genetics Service, St. James's University Hospital, Leeds, UK.
  • Baumann B; Molecular Genetics Laboratory, Institute of Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • Poulter JA; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK.
  • Sajid S; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Panagiotou ES; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK.
  • O'Sullivan J; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, UK.
  • Abdelhamed Z; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK.
  • Bonin M; Department of Medical Genetics, Angewandte Genomik, University of Tübingen, Tübingen, Germany.
  • Soltanifar M; Department of Ophthalmology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan.
  • Black GC; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester, UK.
  • Amin-ud Din M; Dera Ghazi Khan Campus, University of Education, Lahore, Pakistan.
  • Toomes C; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK.
  • Ansar M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
  • Inglehearn CF; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK.
  • Wissinger B; Molecular Genetics Laboratory, Institute of Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.
  • Ali M; Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK.
Mol Vis ; 21: 236-43, 2015.
Article en En | MEDLINE | ID: mdl-25802487
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas / Retinitis Pigmentosa / Consanguinidad / Mutación Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2015 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas / Retinitis Pigmentosa / Consanguinidad / Mutación Límite: Adolescent / Adult / Child / Female / Humans / Male / Middle aged País/Región como asunto: Asia Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2015 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Estados Unidos