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Whole Exome Sequencing of a Dominant Retinitis Pigmentosa Family Identifies a Novel Deletion in PRPF31
PURPOSE. Mutations at some retinitis pigmentosa (RP) loci are associated with variable penetrance and expressivity, exacerbating diagnostic challenges. The purpose of this study was to dissect the genetic underpinnings of nonsyndromic RP with variable age of onset in a large Mexican family. METHODS....
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| Main Authors: | , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Association for Research in Vision and Ophthalmology
2014
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3979517/ https://ncbi.nlm.nih.gov/pubmed/24595387 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.13-13827 |
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