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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

Usher syndrome is a rare disorder causing retinitis pigmentosa, together with sensorineural hearing loss. Due to the phenotypic and genetic heterogeneity of this disease, the best method to screen the causative mutations is by high-throughput sequencing. In this study, we tested a semiconductor chip...

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Publicat a:Sci Rep
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6244211/
https://ncbi.nlm.nih.gov/pubmed/30459346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-35085-0
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