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关于临床判断致病性突变和无害突变的思考
by
张成
in
先天性
/ 基因
/ 神经系统疾病
/ 突变
/ 综述
/ 遗传性疾病
2017
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关于临床判断致病性突变和无害突变的思考
by
张成
in
先天性
/ 基因
/ 神经系统疾病
/ 突变
/ 综述
/ 遗传性疾病
2017
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Journal Article
关于临床判断致病性突变和无害突变的思考
2017
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Overview
近年来,二代基因测序(NGS)技术的普及使诸多既往难以确定的、遗传异质性较强的疾病,如肌萎缩侧索硬化症(ALS)、腓骨肌萎缩症(CMT)、遗传性痉挛性截瘫(HSP)、脊髓小脑共济失调(SCA)、肢带型肌营养不良症(LGMD)等的致病性突变位点得以明确,为临床诊断与遗传咨询提供重要信息。
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