Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease
Barny, Iris, Perrault, Isabelle, Michel, Christel, Soussan, Mickael, Goudin, Nicolas, Rio, Marlène, Thomas, Sophie, Attié-Bitach, Tania, Hamel, Christian, Dollfus, Hélène, Kaplan, Josseline, Rozet, JeLangue:
english
Journal:
Human Molecular Genetics
DOI:
10.1093/hmg/ddy179
Date:
May, 2018
Fichier:
PDF, 1.35 MB
english, 2018