Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells

Mutations in the RP2 gene lead to a severe form of X-linked retinitis pigmentosa. RP2 patients frequently present with nonsense mutations and no treatments are currently available to restore RP2 function. In this study, we reprogrammed fibroblasts from an RP2 patient carrying the nonsense mutation c...

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Publicado en:Hum Mol Genet
Autores principales: Schwarz, Nele, Carr, Amanda-Jayne, Lane, Amelia, Moeller, Fabian, Chen, Li Li, Aguilà, Mònica, Nommiste, Britta, Muthiah, Manickam N., Kanuga, Naheed, Wolfrum, Uwe, Nagel-Wolfrum, Kerstin, da Cruz, Lyndon, Coffey, Peter J., Cheetham, Michael E., Hardcastle, Alison J.
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2015
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4986549/
https://ncbi.nlm.nih.gov/pubmed/25292197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu509
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