High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative.
Scientific Reports
Fuster-García, Carla C; García-García, Gema G; Jaijo, Teresa T; Fornés, Neus N; Ayuso, Carmen C; Fernández-Burriel, Miguel M; Sánchez-De la Morena, Ana A; Aller, Elena E; Millán, José M JM
Publication Date: 2018-11-20
Variant appearance in text: USH2A: 13778_13779insTT