Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing

Hearing loss is one of the most common sensory disorders in humans. This study proposes a stepwise strategy of deafness gene detection using multiplex PCR combined with high-throughput sequencing, Sanger sequencing, multiplex ligation-dependent probe amplification (MLPA), and whole-exome sequencing...

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Detalles Bibliográficos
Autores principales: Zeng, Beiping, Xu, Hongen, Yu, Yanan, Li, Siqi, Tian, Yongan, Li, Tiandong, Yang, Zengguang, Wang, Haili, Wang, Guangke, Chang, Mingxiu, Tang, Wenxue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768221/
https://www.ncbi.nlm.nih.gov/pubmed/36568381
http://dx.doi.org/10.3389/fgene.2022.1057293

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9768221/
https://www.ncbi.nlm.nih.gov/pubmed/36568381
http://dx.doi.org/10.3389/fgene.2022.1057293

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