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Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
Retinitis pigmentosa (RP) is a heterogeneous set of hereditary eye diseases, characterized by selective death of photoreceptor cells in the retina, resulting in progressive visual impairment. Approximately 20–40% of RP cases are autosomal dominant RP (ADRP). In this study, a Chinese ADRP family prev...
Uloženo v:
| Vydáno v: | Sci Rep |
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| Hlavní autoři: | , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5122955/ https://ncbi.nlm.nih.gov/pubmed/27886254 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep37840 |
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