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

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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Bibliographic Details
Main Authors: Lonneke Duijkers, L. Ingeborgh van den Born, John Neidhardt, Nathalie M. Bax, Laurence H. M. Pierrache, B. Jeroen Klevering, Rob W. J. Collin, Alejandro Garanto
Format: Article
Language:English
Published: MDPI AG 2018-03-01
Series:International Journal of Molecular Sciences
Subjects:
CEP290
antisense oligonucleotides
splicing correction
compound heterozygosity
Leber congenital amaurosis
Online Access:http://www.mdpi.com/1422-0067/19/3/753

Internet

http://www.mdpi.com/1422-0067/19/3/753

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