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Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures (j...

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Detalles Bibliográficos
Autores principales: Charizopoulou, Nikoletta, Lelli, Andrea, Schraders, Margit, Ray, Kausik, Hildebrand, Michael S., Ramesh, Arabandi, Srisailapathy, C. R. Srikumari, Oostrik, Jaap, Admiraal, Ronald J. C., Neely, Harold R., Latoche, Joseph R., Smith, Richard J. H., Northup, John K., Kremer, Hannie, Holt, Jeffrey R., Noben-Trauth, Konrad
Formato: Texto
Lenguaje:English
Publicado: Nature Publishing Group 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3105340/
https://www.ncbi.nlm.nih.gov/pubmed/21326233
http://dx.doi.org/10.1038/ncomms1200