Article
Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.
Medicine - 23 Apr 2021
Wang Jiuxiang, Tang Lulu, Xu Anqi, Zhang Shijie, Jiang Hailin, Pei Pei, Li Hongmei, Lv Tingting, Yang Yue, Qian Nannan, Naidu Keegan, Yang Wenming
Abstract excerpt
INTRODUCTION: Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the ATPase copper transporting beta gene (ATP7B). WD can cause fatal neurological and hepatic disorders if not diagnosed and treated. OBJECTIVE: To analyze the disease-causing mutations of 14 Chinese WD children, 11 of whom are diagnosed with hepatic disorders, 2 with neurological degeneration and 1 with...
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