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Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
Iosifidis, Christos; Liu, Jingshu; Gale, Theodora; Ellingford, Jamie M; Campbell, Christopher; Ingram, Stuart; Chandler, Kate; Parry, Neil R A; Black, Graeme C; Sergouniotis, Panagiotis I.
Afiliación
  • Iosifidis C; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Liu J; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Gale T; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Ellingford JM; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Campbell C; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Ingram S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.
  • Chandler K; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Parry NRA; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Black GC; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
  • Sergouniotis PI; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Acta Ophthalmol ; 100(6): e1332-e1339, 2022 Sep.
Article en En | MEDLINE | ID: mdl-35633130
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Hereditarias del Ojo / Ceguera Nocturna / Enfermedades Genéticas Ligadas al Cromosoma X / Canales Catiónicos TRPM Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Acta Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: 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 / Enfermedades Genéticas Ligadas al Cromosoma X / Canales Catiónicos TRPM Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Acta Ophthalmol Asunto de la revista: OFTALMOLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido