机译:适用于两种无关患者的父目天使患者,依赖于整体exome测序和甲基化特异性多重连接依赖性探针扩增
Zhengzhou Univ Childrens Hosp Dept Pediat 255 Gangdu St Zhengzhou 450053 Henan Peoples R China;
Aegicare Shenzhen Technol Co Ltd Shenzhen 518060 Guangdong Peoples R China;
Zhengzhou Univ Childrens Hosp Dept Pediat 255 Gangdu St Zhengzhou 450053 Henan Peoples R China;
Zhengzhou Univ Childrens Hosp Dept Pediat 255 Gangdu St Zhengzhou 450053 Henan Peoples R China;
Zhengzhou Univ Childrens Hosp Dept Pediat 255 Gangdu St Zhengzhou 450053 Henan Peoples R China;
Zhengzhou Univ Childrens Hosp Dept Pediat 255 Gangdu St Zhengzhou 450053 Henan Peoples R China;
Angelman syndrome; uniparental disomy; whole exome sequencing; isodisomy; Sanger sequencing;
机译:适用于两种无关患者的父目天使患者,依赖于整体exome测序和甲基化特异性多重连接依赖性探针扩增
机译:多重连接依赖性探针扩增的应用,以及在两名患有3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症的患者中鉴定1号染色体的杂合Alu相关缺失和单亲二体性
机译:多重连接依赖性探针扩增的应用,以及在两名患有3-羟基-3-甲基戊二酰辅酶A裂解酶缺乏症的患者中鉴定1号染色体的杂合Alu相关缺失和单亲二体性
机译:测序标记的依赖于多联结的探针扩增与热测序联用的无染料检测多基因表达,用于大肠癌的诊断
机译:完整外显子组测序和甲基化特异性多重连接依赖探针扩增技术用于鉴定两名不相关患者的父系单亲二体化所致的Angelman综合征
机译:prader-Willi和angelman综合征的甲基化特异性熔解分析和甲基化特异性多重连接依赖性探针扩增的分子诊断