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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Detalles Bibliográficos
Autores principales: Ezquerra-Inchausti, Maitane, Barandika, Olatz, Anasagasti, Ander, Irigoyen, Cristina, López de Munain, Adolfo, Ruiz-Ederra, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206707/
https://www.ncbi.nlm.nih.gov/pubmed/28045043
http://dx.doi.org/10.1038/srep39652

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206707/
https://www.ncbi.nlm.nih.gov/pubmed/28045043
http://dx.doi.org/10.1038/srep39652

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