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RPGR: Its role in photoreceptor physiology, human disease, and future therapies

Mammalian photoreceptors contain specialised connecting cilia that connect the inner (IS) to the outer segments (OS). Dysfunction of the connecting cilia due to mutations in ciliary proteins are a common cause of the inherited retinal dystrophy retinitis pigmentosa (RP). Mutations affecting the Reti...

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Detalles Bibliográficos
Autores principales: Megaw, Roly D., Soares, Dinesh C., Wright, Alan F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4553903/
https://www.ncbi.nlm.nih.gov/pubmed/26093275
http://dx.doi.org/10.1016/j.exer.2015.06.007