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The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness

The gene coding for centrosomal protein 290 (CEP290), a large multidomain protein, is the most frequently mutated gene underlying the non-syndromic blinding disorder Leber's congenital amaurosis (LCA). CEP290 has also been implicated in several cilia-related syndromic disorders including Meckel...

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Autors principals: Baye, Lisa M., Patrinostro, Xiaobai, Swaminathan, Svetha, Beck, John S., Zhang, Yan, Stone, Edwin M., Sheffield, Val C., Slusarski, Diane C.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3063982/
https://ncbi.nlm.nih.gov/pubmed/21257638
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr025
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