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Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss

BACKGROUND: Hereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease. Therefore, it is difficult to identify the causative gene mutations involved. In this study, we combined targeted genomic capture and massively parallel sequenci...

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Detalles Bibliográficos
Autores principales: Wei, Qinjun, Zhu, Hongmei, Qian, Xuli, Chen, Zhibin, Yao, Jun, Lu, Yajie, Cao, Xin, Xing, Guangqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4234825/
https://www.ncbi.nlm.nih.gov/pubmed/25388789
http://dx.doi.org/10.1186/s12967-014-0311-1