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Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

BACKGROUND: Recessive mutations in GJB2 is the most common cause of genetic hearing loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 variants in Chinese Han deaf patients and to investigate the underlying causative genes in patients with mono-allelic GJB2 muta...

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Detalles Bibliográficos
Autores principales:	Yu, Xiaoyu, Lin, Yun, Xu, Jun, Che, Tuanjie, Li, Lin, Yang, Tao, Wu, Hao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2020
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6986010/ https://www.ncbi.nlm.nih.gov/pubmed/31992338 http://dx.doi.org/10.1186/s13023-020-1311-2

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