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Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa

PURPOSE: Mutations in genes encoding proteins from the tri-snRNP complex of the spliceosome account for more than 12% of cases of autosomal dominant retinitis pigmentosa (adRP). Although the exact mechanism by which splicing factor defects trigger photoreceptor death is not completely clear, their r...

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Detalles Bibliográficos
Autores principales:	Benaglio, Paola, San Jose, Patricia Fernandez, Avila-Fernandez, Almudena, Ascari, Giulia, Harper, Shyana, Manes, Gaël, Ayuso, Carmen, Hamel, Christian, Berson, Eliot L., Rivolta, Carlo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4063357/ https://www.ncbi.nlm.nih.gov/pubmed/24959063

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