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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244211/
https://www.ncbi.nlm.nih.gov/pubmed/30459346
http://dx.doi.org/10.1038/s41598-018-35085-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244211/
https://www.ncbi.nlm.nih.gov/pubmed/30459346
http://dx.doi.org/10.1038/s41598-018-35085-0

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