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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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發表在: | Mol Vis |
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Main Authors: | , , , , |
格式: | Artigo |
語言: | Inglês |
出版: |
Molecular Vision
2016
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主題: | |
在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4901053/ https://ncbi.nlm.nih.gov/pubmed/27307694 |
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