The clinical features of retinal disease due to a dominant mutation in RPE65

PURPOSE: To present a detailed phenotypic and molecular study of two families with autosomal dominant RPE65-related retinal dystrophy. METHODS: Five patients from two families were ascertained from the retinal clinics of a tertiary referral center. Phenotyping included retinal imaging and electrophy...

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Detalles Bibliográficos
Autores principales: Hull, Sarah, Mukherjee, Rajarshi, Holder, Graham E., Moore, Anthony T., Webster, Andrew R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901053/
https://www.ncbi.nlm.nih.gov/pubmed/27307694

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901053/
https://www.ncbi.nlm.nih.gov/pubmed/27307694

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