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Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration

Mutations in the gene centrosomal protein 290 kDa (CEP290) cause an array of debilitating and phenotypically distinct human diseases, ranging from the devastating blinding disease Leber congenital amaurosis (LCA) to Senior-Løken syndrome, Joubert syndrome, and the lethal Meckel-Gruber syndrome. Desp...

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Detalhes bibliográficos
Main Authors: Drivas, Theodore G., Holzbaur, Erika L.F., Bennett, Jean
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3784542/
https://ncbi.nlm.nih.gov/pubmed/24051377
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI69448
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