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New variants and in silico analyses in GRK1 associated Oguchi disease.
Poulter, James A; Gravett, Molly S C; Taylor, Rachel L; Fujinami, Kaoru; De Zaeytijd, Julie; Bellingham, James; Rehman, Atta Ur; Hayashi, Takaaki; Kondo, Mineo; Rehman, Abdur; Ansar, Muhammad; Donnelly, Dan; Toomes, Carmel; Ali, Manir; De Baere, Elfride; Leroy, Bart P; Davies, Nigel P; Henderson, Robert H; Webster, Andrew R; Rivolta, Carlo; Zeitz, Christina; Mahroo, Omar A; Arno, Gavin; Black, Graeme C M; McKibbin, Martin; Harris, Sarah A; Khan, Kamron N; Inglehearn, Chris F.
Afiliación
  • Poulter JA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Gravett MSC; School of Molecular and Cellular Biology, University of Leeds, Leeds, UK.
  • Taylor RL; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Fujinami K; National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Centre, Tokyo, Japan.
  • De Zaeytijd J; Moorfields Eye Hospital, London, UK.
  • Bellingham J; UCL Institute of Ophthalmology, London, UK.
  • Rehman AU; Keio University School of Medicine, Tokyo, Japan.
  • Hayashi T; Ghent University, Ghent, Belgium.
  • Kondo M; UCL Institute of Ophthalmology, London, UK.
  • Rehman A; Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, Lausanne, Switzerland.
  • Ansar M; The Jikei University School of Medicine, Tokyo, Japan.
  • Donnelly D; Mie University Graduate School of Medicine, Mie, Japan.
  • Toomes C; Department of Genetics, Faculty of Science, Hazara University Mansehra, Dhodial, Pakistan.
  • Ali M; Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • De Baere E; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Leroy BP; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Henderson RH; Ghent University, Ghent, Belgium.
  • Webster AR; Ghent University, Ghent, Belgium.
  • Rivolta C; Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Zeitz C; St Thomas's Hospital, London, UK.
  • Mahroo OA; Department of Ophthalmology, Great Ormond Street Hospital, London, UK.
  • Arno G; Moorfields Eye Hospital, London, UK.
  • Black GCM; UCL Institute of Ophthalmology, London, UK.
  • McKibbin M; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK.
  • Harris SA; Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
  • Khan KN; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland.
  • Inglehearn CF; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.
Hum Mutat ; 42(2): 164-176, 2021 02.
Article en En | MEDLINE | ID: mdl-33252155
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Hereditarias del Ojo / Ceguera Nocturna / Quinasa 1 del Receptor Acoplado a Proteína-G Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Hereditarias del Ojo / Ceguera Nocturna / Quinasa 1 del Receptor Acoplado a Proteína-G Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: Reino Unido