SINE-VNTR-Alu retrotransposon insertion as a novel mutational event underlying Glanzmann thrombasthenia.

导出原文传递

翻译打印收藏纠错

第一作者： Jiasheng,Zhang

第一单位： Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.

作者： Jiasheng,Zhang ^[1] ; Jie,Tang ^[1] ; Guoqiang,Li ^[1] ; Niu,Li ^[1] ; Jian,Wang ^[2] ; Ruen,Yao ^[3] ; Tingting,Yu ^[4]

作者单位： Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. ^[1] International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. ^[2] Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. Electronic address: yaoruen@scmc.com.cn. ^[3] Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China. Electronic address: yutingting@scmc.com.cn. ^[4]

关键词 Glanzmann thrombasthenia ITGB3 SINE-VNTR-Alu retrotransposon high-throughput sequencing platelet

主题词人类(Humans);血小板无力症(Thrombasthenia);反转录因子(Retroelements);血小板糖蛋白GPⅡb-Ⅲa复合物(Platelet Glycoprotein GPIIb-IIIa Complex);表型(Phenotype);血小板(Blood Platelets);整合素β3(Integrin beta3)

DOI 10.1016/j.jtha.2023.08.012

PMID 37604334

发布时间 2024-03-20

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交