Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2

BACKGROUND: Mutations in the GJB2 gene are the most common cause of nonsyndromic recessive hearing loss in China. In about 6% of Chinese patients with severe to profound sensorineural hearing impairment, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity have be...

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Detalhes bibliográficos
Main Authors: Yuan, Yongyi, Yu, Fei, Wang, Guojian, Huang, Shasha, Yu, Ruili, Zhang, Xin, Huang, Deliang, Han, Dongyi, Dai, Pu
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2010
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3014891/
https://ncbi.nlm.nih.gov/pubmed/21122151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1479-5876-8-127
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