Targeted next generation sequencing for molecular diagnosis of Usher syndrome

BACKGROUND: Usher syndrome is an autosomal recessive disease that associates sensorineural hearing loss, retinitis pigmentosa and, in some cases, vestibular dysfunction. It is clinically and genetically heterogeneous. To date, 10 genes have been associated with the disease, making its molecular diag...

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Detalles Bibliográficos
Autores principales: Aparisi, María J, Aller, Elena, Fuster-García, Carla, García-García, Gema, Rodrigo, Regina, Vázquez-Manrique, Rafael P, Blanco-Kelly, Fiona, Ayuso, Carmen, Roux, Anne-Françoise, Jaijo, Teresa, Millán, José M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245769/
https://www.ncbi.nlm.nih.gov/pubmed/25404053
http://dx.doi.org/10.1186/s13023-014-0168-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4245769/
https://www.ncbi.nlm.nih.gov/pubmed/25404053
http://dx.doi.org/10.1186/s13023-014-0168-7

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