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High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa
Retinitis pigmentosa is the most frequent group of inherited retinal dystrophies. It is highly heterogeneous, with more than 80 disease-causing genes 27 of which are known to cause autosomal dominant RP (adRP), having been identified. In this study a total of 29 index cases were ascertained based on...
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| Publicado no: | Sci Rep |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5206707/ https://ncbi.nlm.nih.gov/pubmed/28045043 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep39652 |
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