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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Academic Press
2015
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| 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 |