AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (>10%) is located deep in intron 26 of the CEP290 gene (c.2991+1655A>G). It creates a strong splice donor site that leads to i...

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Bibliografski detalji
Glavni autori: Gerard, Xavier, Perrault, Isabelle, Hanein, Sylvain, Silva, Eduardo, Bigot, Karine, Defoort-Delhemmes, Sabine, Rio, Marlèene, Munnich, Arnold, Scherman, Daniel, Kaplan, Josseline, Kichler, Antoine, Rozet, Jean-Michel
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2012
Teme:
Original Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3390222/
https://ncbi.nlm.nih.gov/pubmed/23344081
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/mtna.2012.21
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