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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Bibliografiska uppgifter
Huvudupphovsmän: Garanto, Alejandro, van Beersum, Sylvia E. C., Peters, Theo A., Roepman, Ronald, Cremers, Frans P. M., Collin, Rob W. J.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2013
Ämnen:
Research Article
Länkar: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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