摘要
线粒体疾病受线粒体DNA和核基因组的双重调控,对线粒体DNA的变异解读一直充满挑战,本文将美国贝勒医学院临床医学遗传诊断室于2020年发表的线粒体信使RNA(mRNA)变异分类标准进行解读,以期为我国临床医生提供线粒体mRNA变异解读的最新依据。
作者
尹飞
Lee-jun Wong
蒋莉
周水珍
方方
陈燕惠
张爱华
操德智
韩蕴丽
孙丹
羊蠡
吴腾辉
张巍
彭镜
Fei Yin;Lee-jun Wong;Li Jiang;Shuizhen Zhou;Fang Fang;Yanhui Chen;Aihua Zhang;Dezhi Cao;Yunli Han;Dan Sun;Li Yang;Tenghui Wu;Wei Zhang;Jing Peng(Department of Pediatrics,Xiangya Hospital,Central South University,Changsha 410008,China;Department of Molecular and Human Genetics,Baylor College of Medicine,Texas 77030,USA;Department of Neurology,Chongqing Children′s Hospital,Chongqing 400014,China;Department of Neurology,Children′s Hospital of Fudan University,Shanghai 200433,China;Department of Neurology,Beijing Children′s Hospital,Beijing 100045,China;Department of Pediatrics,Fujian Medical University Union Hospital,Fuzhou 350005,China;Department of Nephrology,Children′s Hospital of Nanjing Medical University,Nanjing 210008,China;Department of Neurology,Shenzhen Children′s Hospital,Shenzhen 518038,China;Department of Pediatrics,First Affiliated Hospital of Guangxi Medical University,Nanning 530027,China;Department of Neurology,Wuhan Children′s Hospital,Wuhan 430016,China)
出处
《中华儿科杂志》
CAS
CSCD
北大核心
2021年第12期1032-1037,共6页
Chinese Journal of Pediatrics
