Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss

To report two DFNA5 pathogenic splice-site variations and a novel benign frameshift variation to further support the gain-of-function mechanism of DFNA5 related hearing impairment, targeted genes capture and next generation sequencing were performed on selected members from Family 1007208, 1007081 a...

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Detalhes bibliográficos
Publicado no:Sci Rep
Principais autores: Wang, Hongyang, Guan, Jing, Guan, Liping, Yang, Ju, Wu, Kaiwen, Lin, Qiongfen, Xiong, Wenping, Lan, Lan, Zhao, Cui, Xie, Linyi, Yu, Lan, Dan Bing, Zhao, Lidong, Wang, Dayong, Wang, Qiuju
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5976723/
https://ncbi.nlm.nih.gov/pubmed/29849037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-26554-7
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