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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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Dades bibliogràfiques
Publicat a:Hum Mol Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2016
Matèries:
Accés en línia: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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