Prevalence of the <Emphasis Type="Italic">GJB2</Emphasis> IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of <Emphasis Type="Italic">GJB2</Emphasis> |
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Authors: | Yongyi Yuan Fei Yu Guojian Wang Shasha Huang Ruili Yu Xin Zhang Deliang Huang Dongyi Han Pu Dai |
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Institution: | 1.Department of Otolaryngology,PLA General Hospital,Beijing,People's Republic of China |
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Abstract: | 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 loss patients with monoallelic pathogenic mutation in the coding region
of GJB2. |
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