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

Internet

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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