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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...

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Detalles Bibliográficos
Autores principales: Rachel, Rivka A, Li, Tiansen, Swaroop, Anand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
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