A Novel DFNA36 Mutation in TMC1 Orthologous to the Beethoven (Bth) Mouse Associated with Autosomal Dominant Hearing Loss in a Chinese Family

Mutations in the transmembrane channel-like gene 1 (TMC1) can cause both DFNA36 and DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only three DFNA36 mutations were reported previously. In this study, we found a large Chinese family with 222 family members showing...

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Autori principali: Zhao, Yali, Wang, Dayong, Zong, Liang, Zhao, Feifan, Guan, Liping, Zhang, Peng, Shi, Wei, Lan, Lan, Wang, Hongyang, Li, Qian, Han, Bing, Yang, Ling, Jin, Xin, Wang, Jian, Wang, Jun, Wang, Qiuju
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2014
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4020765/
https://ncbi.nlm.nih.gov/pubmed/24827932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0097064
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