Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom

PURPOSE: In a large cohort of molecularly characterized inherited retinal disease (IRD) families, we investigated proportions with disease attributable to causative variants in each gene. DESIGN: Retrospective study of electronic patient records. PARTICIPANTS: Patients and relatives managed in the G...

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Detalles Bibliográficos
Autores principales: Pontikos, Nikolas, Arno, Gavin, Jurkute, Neringa, Schiff, Elena, Ba-Abbad, Rola, Malka, Samantha, Gimenez, Ainoa, Georgiou, Michalis, Wright, Genevieve, Armengol, Monica, Knight, Hannah, Katz, Menachem, Moosajee, Mariya, Yu-Wai-Man, Patrick, Moore, Anthony T., Michaelides, Michel, Webster, Andrew R., Mahroo, Omar A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7520514/
https://www.ncbi.nlm.nih.gov/pubmed/32423767
http://dx.doi.org/10.1016/j.ophtha.2020.04.008

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7520514/
https://www.ncbi.nlm.nih.gov/pubmed/32423767
http://dx.doi.org/10.1016/j.ophtha.2020.04.008

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