Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.

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作者： Shijie,Zhang ^[1] ; Wenming,Yang ^[2] ; Xiang,Li ^[3] ; Pei,Pei ^[4] ; Ting,Dong ^[4] ; Yue,Yang ^[4] ; Jing,Zhang ^[4]

作者单位： Experimental Center of Clinical Research, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, 230031, China. ^[1] Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, 230031, China. yangwm8810@126.com. ^[2] Key Laboratory of Xin'An Medicine, Anhui University of Chinese Medicine, Hefei, 230031, China. yangwm8810@126.com. ^[3] Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, 230031, China. ^[4] Key Laboratory of Xin'An Medicine, Anhui University of Chinese Medicine, Hefei, 230031, China. ^[5] Department of Neurology, The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei, 230031, China. zj5125115@163.com. ^[6]

关键词 ATP7B Chinese Genotype–phenotype correlation Large cohort study Wilson’s disease

主题词中国(China);基因频率(Gene Frequency);遗传关联研究(Genetic Association Studies);基因型(Genotype);肝豆状核变性(Hepatolenticular Degeneration);人类(Humans)

DOI 10.1186/s40035-022-00287-0

PMID 35220961

发布时间 2022-04-05

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准确一般字义偏差语意偏离译文作用小提交