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Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

Leber congenital amaurosis (LCA) is the most severe form of retinal dystrophy with an onset in the first year of life. The most frequent genetic cause of LCA, accounting for up to 15% of all LCA cases in Europe and North-America, is a mutation (c.2991+1655AG) in intron 26 of CEP290. This mutation ge...

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Autors principals: Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3819269/
https://ncbi.nlm.nih.gov/pubmed/24223178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0079369
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