Article
Identification of potential modifier genes in Chinese patients with Wilson disease.
Metallomics : integrated biometal science - 27 May 2022
Zhou Donghu, Jia Siyu, Yi Liping, Wu Zhen, Song Yi, Zhang Bei, Li Yanmeng, Yang Xiaoxi, Xu Anjian, Li Xiaojin, Zhang Wei, Duan Weijia, Li Zhenkun, Qi Saiping, Chen Zhibin, Ouyang Qin, Jia Jidong, Huang Jian, Ou Xiaojuan, You Hong
Abstract excerpt
The mutations in modifier genes may contribute to some inherited diseases including Wilson disease (WD). This study was designed to identify potential modifier genes that contribute to WD. A total of 10 WD patients with single or no heterozygous ATP7B mutations were recruited for whole-exome sequencing (WES). Five hundred and thirteen candidate genes, of which the genetic variants present in at least two...
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