Article
[Analysis of common mutations of deafness-related genes in 2725 newborns].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2015
Yu Hong, Liu Dan, Yang Jingqun, Wu Zhiqiang, Sun Dongmei, Ma Wolong
Abstract excerpt
OBJECTIVE: To screen for common mutations of deafness-related genes in order to determine the carrier rate, types of mutation, and their relevance to hearing loss. METHODS: For 4 deafness-related genes GJB2, GJB3, 12S rRNA and SLC26A4, 20 common mutations were screened among 2725 newborns from Shaoxing, Zhejiang by matrix-assisted laser desorption ionization-time of flight-mass spectrometry. RESULTS: Among the...
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