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Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290

Leber congenital amaurosis (LCA) is a rare inherited retinal disorder affecting approximately 1:50,000 people worldwide. So far, mutations in 25 genes have been associated with LCA, with CEP290 (encoding the Centrosomal protein of 290 kDa) being the most frequently mutated gene. The most recurrent L...

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Dettagli Bibliografici
Pubblicato in:Int J Mol Sci
Autori principali: Duijkers, Lonneke, van den Born, L. Ingeborgh, Neidhardt, John, Bax, Nathalie M., Pierrache, Laurence H. M., Klevering, B. Jeroen, Collin, Rob W. J., Garanto, Alejandro
Natura: Artigo
Lingua:Inglês
Pubblicazione: MDPI 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5877614/
https://ncbi.nlm.nih.gov/pubmed/29518907
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19030753
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