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An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis

The diagnosis of the genetic etiology of deafness contributes to the clinical management of patients. We performed the following four genetic tests in three stages for 52 consecutive deafness subjects in one facility. We used the Invader assay for 46 mutations in 13 genes and Sanger sequencing for t...

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Detalhes bibliográficos
Publicado no:J Hum Genet
Main Authors: Sakuma, Naoko, Moteki, Hideaki, Takahashi, Masahiro, Nishio, Shin-ya, Arai, Yasuhiro, Yamashita, Yukiko, Oridate, Nobuhiko, Usami, Shin-ichi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4819760/
https://ncbi.nlm.nih.gov/pubmed/26763877
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2015.143
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