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High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
Fuster-García, Carla, García-García, Gema, Jaijo, Teresa, Fornés, Neus, Ayuso, Carmen, Fernández-Burriel, Miguel, Sánchez-De la Morena, Ana, Aller, Elena, Millán, José M.Volume:
8
Language:
english
Journal:
Scientific Reports
DOI:
10.1038/s41598-018-35085-0
Date:
December, 2018
File:
PDF, 4.18 MB
english, 2018