A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype - Littink, Karin; Pott, Jan-Willem R.; Collin, Rob W. J.; Kroes, Hester Y.; Verheij, Joke B. G. M.; Blokland, Ellen A. W.; de Castro Miró, Marta; Hoyng, Carel B.; Klaver, Caroline C. W.; Koenekoop, Robert K.; Rohrschneider, Klaus; Cremers, Frans P. M.; et al. (Investigative ophthalmology & visual science, 2010)
Gesehen am 28.03.2023