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Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy.
Silva, Raquel S; Arno, Gavin; Cipriani, Valentina; Pontikos, Nikolas; Defoort-Dhellemmes, Sabine; Kalhoro, Ambreen; Carss, Keren J; Raymond, F Lucy; Dhaenens, Claire Marie; Jensen, Hanne; Rosenberg, Thomas; van Heyningen, Veronica; Moore, Anthony T; Puech, Bernard; Webster, Andrew R.
Afiliación
  • Silva RS; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Arno G; Department of Genetics, Moorfields Eye Hospital, London, United Kingdom.
  • Cipriani V; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Pontikos N; Department of Genetics, Moorfields Eye Hospital, London, United Kingdom.
  • Defoort-Dhellemmes S; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Kalhoro A; Department of Genetics, Moorfields Eye Hospital, London, United Kingdom.
  • Carss KJ; Department of Clinical Pharmacology, William Harvey Research Institute, Queen Mary University of London, United Kingdom.
  • Raymond FL; Department of Genetics, UCL Genetics Institute, Evolution and Environment, London, United Kingdom.
  • Dhaenens CM; UCL Institute of Ophthalmology, University College London, London, United Kingdom.
  • Jensen H; Department of Genetics, Moorfields Eye Hospital, London, United Kingdom.
  • Rosenberg T; Department of Genetics, UCL Genetics Institute, Evolution and Environment, London, United Kingdom.
  • van Heyningen V; Exploration de la Vision et Neuro-Ophtalmologie, Centre Hospitalier Universitaire, Lille, France.
  • Moore AT; Department of Genetics, Moorfields Eye Hospital, London, United Kingdom.
  • Puech B; Department of Haematology, University of Cambridge, Cambridge, United Kingdom.
  • Webster AR; NIHR BioResource-Rare Diseases, Cambridge University Hospitals, Cambridge Biomedical Campus, Cambridge, United Kingdom.
Hum Mutat ; 40(5): 578-587, 2019 05.
Article en En | MEDLINE | ID: mdl-30710461
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Factores de Transcripción / Distrofias Hereditarias de la Córnea / N-Metiltransferasa de Histona-Lisina / Predisposición Genética a la Enfermedad / Regiones no Traducidas 5' / Distrofias Retinianas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Factores de Transcripción / Distrofias Hereditarias de la Córnea / N-Metiltransferasa de Histona-Lisina / Predisposición Genética a la Enfermedad / Regiones no Traducidas 5' / Distrofias Retinianas Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Adult / Female / Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Reino Unido