1. Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease. (16th May 2018) Authors: Barny, Iris; Perrault, Isabelle; Michel, Christel; Soussan, Mickael; Goudin, Nicolas; Rio, Marlène; Thomas, Sophie; Attié-Bitach, Tania; Hamel, Christian; Dollfus, Hélène; Kaplan, Josseline; Rozet, Jean-Michel; Gerard, Xavier Journal: Human molecular genetics Issue: Volume 27:Number 15(2018:Aug. 01) Page Start: 2689 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗