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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Detalles Bibliográficos
Autores principales: Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819269/
https://www.ncbi.nlm.nih.gov/pubmed/24223178
http://dx.doi.org/10.1371/journal.pone.0079369

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3819269/
https://www.ncbi.nlm.nih.gov/pubmed/24223178
http://dx.doi.org/10.1371/journal.pone.0079369

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