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Recessive mutations of TMC1 associated with moderate to severe hearing loss

TMC1 encodes a protein required for the normal function of mechanically-activated channels that enable sensory transduction in auditory and vestibular hair cells. TMC1 protein is localized at the tips of the hair cell stereocilia, the site of conventional mechanotransduction. In many populations, lo...

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Dades bibliogràfiques
Publicat a:Neurogenetics
Autors principals: Imtiaz, Ayesha, Maqsood, Azra, Rehman, Atteeq U., Morell, Robert J., Holt, Jeffrey R., Friedman, Thomas B., Naz, Sadaf
Format: Artigo
Idioma:Inglês
Publicat: 2016
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4795972/
https://ncbi.nlm.nih.gov/pubmed/26879195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-016-0477-1
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