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Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins
Ciliopathies encompass a broad array of clinical findings associated with genetic defects in biogenesis and/or function of the primary cilium, a ubiquitous organelle involved in the transduction of diverse biological signals. Degeneration or dysfunction of retinal photoreceptors is frequently observ...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3563624/ https://www.ncbi.nlm.nih.gov/pubmed/23351659 http://dx.doi.org/10.1186/2046-2530-1-22 |