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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Detalles Bibliográficos
Autores principales: Sakuma, Naoko, Moteki, Hideaki, Takahashi, Masahiro, Nishio, Shin-ya, Arai, Yasuhiro, Yamashita, Yukiko, Oridate, Nobuhiko, Usami, Shin-ichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819760/
https://www.ncbi.nlm.nih.gov/pubmed/26763877
http://dx.doi.org/10.1038/jhg.2015.143

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4819760/
https://www.ncbi.nlm.nih.gov/pubmed/26763877
http://dx.doi.org/10.1038/jhg.2015.143

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