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8 天
探寻中欧人群大前庭水管综合征致聋基因新线索
研究人员采用了多种关键技术方法。首先,收集患者的外周血样本,提取基因组 DNA(gDNA)。接着,运用 Sanger 测序、单核苷酸多态性(SNP)检测、拷贝数变异(CNV)检测以及全外显子测序(ES)等技术对相关基因进行分析。为了判断基因变异对蛋白质功能的影响,还进行了基于细胞的功能和分子检测。
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