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

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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Detalhes bibliográficos
Principais autores: Elvir Becirovic, Sybille Böhm, Ong Nam Phuong Nguyen, Lisa Maria Riedmayr, Mirja Annika Koch, Elisabeth Schulze, Susanne Kohl, Oliver Borsch, Tiago Santos-Ferreira, Marius Ader, Stylianos Michalakis, Martin Biel
Formato: Artigo
Idioma:English
Publicado em: Public Library of Science (PLoS) 2016-01-01
coleção:PLoS Genetics
Acesso em linha:http://europepmc.org/articles/PMC4722987?pdf=render

Internet

http://europepmc.org/articles/PMC4722987?pdf=render

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