In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors

Point mutations in peripherin-2 (PRPH2) are associated with severe retinal degenerative disorders affecting rod and/or cone photoreceptors. Various disease-causing mutations have been identified, but the exact contribution of a given mutation to the clinical phenotype remains unclear. Exonic point m...

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Detalles Bibliográficos
Autores principales: Becirovic, Elvir, Böhm, Sybille, Nguyen, Ong Nam Phuong, Riedmayr, Lisa Maria, Koch, Mirja Annika, Schulze, Elisabeth, Kohl, Susanne, Borsch, Oliver, Santos-Ferreira, Tiago, Ader, Marius, Michalakis, Stylianos, Biel, Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722987/
https://www.ncbi.nlm.nih.gov/pubmed/26796962
http://dx.doi.org/10.1371/journal.pgen.1005811

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