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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2016
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| Materias: | |
| 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 |