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机译:法布里病:NGS检测ALU介导的外显子复制
Ruhr Univ Bochum Clin Gen &
Int Cardiol Angiol Herz &
Diabeteszent Bad Oeynhausen Germany;
Univ Porto Fac Med Dept Patol Unidade Genet Alameda Hemdni Monteiro P-4200319 Porto Portugal;
Bielefeld Univ Ctr Biotechnol Bielefeld Germany;
Ruhr Univ Bochum Clin Gen &
Int Cardiol Angiol Herz &
Diabeteszent Bad Oeynhausen Germany;
Justus Liebig Univ Giessen Bioinformat &
Syst Biol Giessen Germany;
Bielefeld Univ Ctr Biotechnol Bielefeld Germany;
Ruhr Univ Bochum Inst Lab &
Transfus Med Herz &
Diabeteszentrum Bad Oeynhausen Germany;
Ruhr Univ Bochum Clin Gen &
Int Cardiol Angiol Herz &
Diabeteszent Bad Oeynhausen Germany;
Univ Porto Fac Med Dept Patol Unidade Genet Alameda Hemdni Monteiro P-4200319 Porto Portugal;
Ruhr Univ Bochum Clin Gen &
Int Cardiol Angiol Herz &
Diabeteszent Bad Oeynhausen Germany;
Next-generation sequencing; Exon duplication; Alu elements; Fabry disease;
机译:法布里病:NGS检测ALU介导的外显子复制
机译:Alu介导的重排是亨特病外显子跳跃的原因。
机译:从撒哈拉以南到地中海地区人类壳三糖苷酶基因第10外显子的24 bp复制:寄生虫疾病和环境条件的作用。
机译:使用高阶算法对疾病鉴定的自适应外显子预测
机译:用于EGFR基因外显子18-21突变检测的LATE-PCR和开/关灯探针检测的设计,构建和验证:对非小细胞肺癌的分子诊断意义
机译:使用DECoN在目标NGS面板中准确检测临床外显子拷贝数变异
机译:遇到外显子14改变和新的抗性突变对酪氨酸激酶抑制剂:用基于较大的扩增子的NGS面板检测不足的风险