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Article

AAV-mediated gene augmentation therapy restores critical functions in mutant iPSC-derived PRPF31 <sup>+/-</sup> cells

2019-08-08

Abstract excerpt

<h4>ABSTRACT</h4> Retinitis pigmentosa (RP) is the most common form of inherited vision loss and is characterized by degeneration of retinal photoreceptor cells and the retinal pigment epithelium (RPE). Mutations in pre-mRNA processing factor 31 ( PRPF31 ) cause dominant RP via haploinsufficiency with incomplete penetrance. There is good evidence that the diverse severity of this disease is a result of differing...

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Literature Corpus work
76e56d2a-d976-58a2-a00e-8d71322b4d27
DOI
10.1101/729160
Open publication

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AAV-mediated gene augmentation therapy restores critical functions in mutant iPSC-derived PRPF31 <sup>+/-</sup> cellsDOI 10.1101/729160
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