Article
Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.
Journal of translational medicine - 2 Dec 2010
Yuan Yongyi, Yu Fei, Wang Guojian, Huang Shasha, Yu Ruili, Zhang Xin, Huang Deliang, Han Dongyi, Dai Pu
Abstract excerpt
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 been identified. This paper reports the prevalence of the GJB2 IVS1+1G>A mutation in a population of Chinese hearing...
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