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Evaluation of splicing efficiency in lymphoblastoid cell lines from patients with splicing-factor retinitis pigmentosa

PURPOSE: Retinitis pigmentosa (RP) is caused by mutations in a variety of genes, most of which have known functions in the retina. However, one of the most perplexing findings of recent retinal genetics research was the discovery of mutations causing dominant RP in four ubiquitously expressed splici...

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Detalles Bibliográficos
Autores principales: Ivings, Lenka, Towns, Katherine V., Matin, M.A., Taylor, Charles, Ponchel, Frederique, Grainger, Richard J., Ramesar, Rajkumar S., Mackey, David A., Inglehearn, Chris F.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603472/
https://www.ncbi.nlm.nih.gov/pubmed/19096719