Ushersyndrome相关论文
目的:对1个Usher综合征家系的临床特征及基因变异进行分析,明确其遗传病因。方法:对家系中患儿进行全外显子测序,就发现的可疑致病变......
Advances in cochlear implantation for hereditary deafness caused by common mutations in deafness gen
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目的:分析1例Usher综合征Ⅱ型患儿听力障碍相关基因的致病性变异,为其临床诊断提供分子遗传学依据。方法:采集患儿和父母外周血进行......