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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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Detalles Bibliográficos
Autores principales: Baye, Lisa M., Patrinostro, Xiaobai, Swaminathan, Svetha, Beck, John S., Zhang, Yan, Stone, Edwin M., Sheffield, Val C., Slusarski, Diane C.
Formato: Texto
Lenguaje:English
Publicado: Oxford University Press 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3063982/
https://www.ncbi.nlm.nih.gov/pubmed/21257638
http://dx.doi.org/10.1093/hmg/ddr025