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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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Bibliografiske detaljer
Udgivet i:Neurogenetics
Main Authors: Imtiaz, Ayesha, Maqsood, Azra, Rehman, Atteeq U., Morell, Robert J., Holt, Jeffrey R., Friedman, Thomas B., Naz, Sadaf
Format: Artigo
Sprog:Inglês
Udgivet: 2016
Fag:
Online adgang: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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