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Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual
PURPOSE: Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous hereditary retinal diseases that result in blindness due to photoreceptor degeneration. Mutations in the rhodopsin (RHO) gene are the most common cause of autosomal dominant RP (adRP) and are responsible for 16...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Invest Ophthalmol Vis Sci |
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| Κύριοι συγγραφείς: | , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
The Association for Research in Vision and Ophthalmology
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4788094/ https://ncbi.nlm.nih.gov/pubmed/26962691 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.15-18702 |
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