Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.

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作者： Jiaoyang,Chen ^[1] ; Yi,Chen ^[1] ; Ying,Yang ^[1] ; Xueyang,Niu ^[1] ; Jing,Zhang ^[1] ; Qi,Zeng ^[1] ; Aijie,Liu ^[1] ; Xiaojing,Xu ^[1] ; Xiaoxu,Yang ^[2] ; Shupin,Li ^[1] ; Xiaoling,Yang ^[1] ; Yi,Wang ^[3] ; Yuehua,Zhang ^[4]

作者单位： Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, 100034, China. ^[1] Center for Bioinformatics, Peking University, Beijing, 100871, China. ^[2] Department of Neurology, National Epilepsy Center, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China. ^[3] Department of Pediatrics and Pediatric Epilepsy Center, Peking University First Hospital, Beijing, 100034, China. zhangyhdr@126.com. ^[4]

主题词人类(Humans);镶嵌现象(Mosaicism);癫痫(Epilepsy);突变(Mutation);基因组学(Genomics);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing)

DOI 10.1038/s10038-022-01103-3

PMID 36482122

发布时间 2023-02-01

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