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Disease modeling and pharmacological rescue of autosomal dominant Retinitis Pigmentosa associated with RHO copy number variation

Retinitis pigmentosa (RP), a heterogenous group of inherited retinal disorder causes slow progressive vision loss with no effective treatments available. Mutations in the rhodopsin gene (RHO), account for ~25% cases of autosomal dominant RP (adRP). In this study, we describe the disease characterist...

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Detalles Bibliográficos
Autores principales:	Kandoi, Sangeetha, Martinez, Cassandra, Chen, Kevin Xu, Reddy, L Vinod K., Mehine, Miika, Mansfield, Brian C., Duncan, Jacque L., Lamba, Deepak A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002783/ https://www.ncbi.nlm.nih.gov/pubmed/36909455 http://dx.doi.org/10.1101/2023.02.27.23286248

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