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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4245769/
https://ncbi.nlm.nih.gov/pubmed/25404053
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0168-7
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