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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...
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. |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603472/ https://www.ncbi.nlm.nih.gov/pubmed/19096719 |
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