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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Uloženo v:
Podrobná bibliografie
Vydáno v:Orphanet J Rare Dis
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
Research
On-line přístup: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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