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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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| Publicado no: | Mol Vis |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4901053/ https://ncbi.nlm.nih.gov/pubmed/27307694 |
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