AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation-Reference-Cited by-同舟云学术

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

Published:2012 Issue: Volume:1 Page:e29
ISSN:2162-2531
Container-title:Molecular Therapy - Nucleic Acids
language:en
Short-container-title:Molecular Therapy - Nucleic Acids

Author:

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

Publisher

Elsevier BV

Subject

Drug Discovery,Molecular Medicine

Reference31 articles.

1. Leber congenital amaurosis: from darkness to spotlight;Kaplan;Ophthalmic Genet,2008

2. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis;Hanein;Hum Mutat,2004

3. Leber congenital amaurosis: genes, proteins and disease mechanisms;den Hollander;Prog Retin Eye Res,2008

4. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis;den Hollander;Am J Hum Genet,2006

5. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype;Perrault;Hum Mutat,2007

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