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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877614/
https://www.ncbi.nlm.nih.gov/pubmed/29518907
http://dx.doi.org/10.3390/ijms19030753

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877614/
https://www.ncbi.nlm.nih.gov/pubmed/29518907
http://dx.doi.org/10.3390/ijms19030753

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