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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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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
2013
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| Matèries: | |
| Accés en línia: | 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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