A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype

Karin W Littink, Jan-Willem R Pott, Rob W J Collin, Hester Y Kroes, Joke B G M Verheij, Ellen A W Blokland, Marta de Castro Miró, Carel B Hoyng, Caroline C W Klaver, Robert K Koenekoop, Klaus Rohrschneider, Frans P M Cremers, L Ingeborgh van den Born, Anneke I den Hollander

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Biochemistry, Genetics and Molecular Biology