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Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers
PURPOSE: We determined the phenotypic variation, disease progression, and potential modifiers of autosomal dominant retinal dystrophies caused by a splice site founder mutation, c.828+3A>T, in the PRPH2 gene. METHODS: A total of 62 individuals (19 families) harboring the PRPH2 c.828+3A>T mutat...
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| Yayımlandı: | Invest Ophthalmol Vis Sci |
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| Asıl Yazarlar: | , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
The Association for Research in Vision and Ophthalmology
2016
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4736744/ https://ncbi.nlm.nih.gov/pubmed/26842753 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-16965 |
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