In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery

Leber congenital amaurosis (LCA) is a severe disorder resulting in visual impairment usually starting in the first year of life. The most frequent genetic cause of LCA is an intronic mutation in CEP290 (c.2991 + 1655A > G) that creates a cryptic splice donor site resulting in the insertion of a p...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Garanto, Alejandro, Chung, Daniel C., Duijkers, Lonneke, Corral-Serrano, Julio C., Messchaert, Muriël, Xiao, Ru, Bennett, Jean, Vandenberghe, Luk H., Collin, Rob W.J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6086559/
https://ncbi.nlm.nih.gov/pubmed/27106101
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw118
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