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A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere’s disease

Meniere’s Disease (MD) is a complex disorder associated with an accumulation of endolymph in the membranous labyrinth in the inner ear. It is characterized by recurrent attacks of spontaneous vertigo associated with sensorineural hearing loss (SNHL) and tinnitus. The SNHL usually starts at low and m...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Martín-Sierra, Carmen, Requena, Teresa, Frejo, Lidia, Price, Steven D., Gallego-Martinez, Alvaro, Batuecas-Caletrio, Angel, Santos-Pérez, Sofía, Soto-Varela, Andrés, Lysakowski, Anna, Lopez-Escamez, Jose A.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5179939/
https://ncbi.nlm.nih.gov/pubmed/27329761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw183
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