Unravelling the genetics of inherited retinal dystrophies: Past, present and future.

Broadgate, Suzanne; Yu, Jing; Downes, Susan M; Halford, Stephanie

Broadgate, Suzanne; Yu, Jing; Downes, Susan M; Halford, Stephanie.

Afiliação

Broadgate S; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Levels 5 and 6 West Wing, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
Yu J; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Levels 5 and 6 West Wing, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK.
Downes SM; Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford, OX3 9DU, UK.
Halford S; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Levels 5 and 6 West Wing, John Radcliffe Hospital, Headley Way, Oxford, OX3 9DU, UK. Electronic address: stephanie.halford@eye.ox.ac.uk.

Prog Retin Eye Res ; 59: 53-96, 2017 07.

Article em En | MEDLINE | ID: mdl-28363849

Assuntos

Biologia Molecular/métodos; Retina/patologia; Distrofias Retinianas; Sequenciamento de Nucleotídeos em Larga Escala/métodos; Humanos; Distrofias Retinianas/congênito; Distrofias Retinianas/diagnóstico; Distrofias Retinianas/genética

Palavras-chave

Inherited retinal dystrophies; Molecular genetics; Next-generation sequencing; Photoreceptors; Retina

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retina / Distrofias Retinianas / Biologia Molecular Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Prog Retin Eye Res Assunto da revista: OFTALMOLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Reino Unido

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