机译:13个大型Parkin缺失/重复的断点定位揭示了外显子4缺失和外显子7重复是创始人突变
Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands;
Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands;
Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, The Netherlands;
Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands;
Department of Neurology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands;
Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands;
Department of Neurology, University Medical Center Groningen, Groningen, The Netherlands;
Department of Neurology, Meander Medical Center, Amersfoort, The Netherlands;
Department of Neurology, Amphia Hospital Breda, Breda, The Netherlands;
Department of Neurology, Amphia Hospital Breda, Breda, The Netherlands;
Department of Neurology, Er;
Parkinson’s disease; parkin; Deletion; Duplication; Common founder; Breakpoint mapping;
机译:13个大型Parkin缺失/重复的断点定位揭示了外显子4缺失和外显子7重复是建立者突变。
机译:扩大Johanson-Blizzard综合征的突变谱:通过多重连接依赖性探针扩增分析鉴定UBR1基因的完整外显子缺失和重复
机译:扩大Johanson-Blizzard综合征的突变谱:通过多重连接依赖性探针扩增分析鉴定UBR1基因的完整外显子缺失和重复
机译:串联重复,分段重复和删除及其应用
机译:Tbx1在22q11.2删除和复制综合征小鼠模型中的遗传功能。
机译:13个大型Parkin缺失/重复的断点定位揭示了外显子4缺失和外显子7重复是创始人突变
机译:13个大型Parkin缺失/重复的断点定位揭示了外显子4缺失和外显子7重复是创始人突变