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Article

Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa

29 Oct 2012

Abstract excerpt

Approximately 36 000 cases of simplex and familial retinitis pigmentosa (RP) worldwide are caused by a loss in phosphodiesterase (PDE6) function. In the preclinical Pde6α(nmf363) mouse model of this disease, defects in the α-subunit of PDE6 result in a progressive loss of photoreceptors and neuronal function. We hypothesized that increasing PDE6α levels using an AAV2/8 gene therapy vector could improve...

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PMID: 23108158
DOI: 10.1093/hmg/dds466

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