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[Analysis of clinical phenotypes and ATP7B gene variants in 75 children patients with Wilson' s disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Apr 2022

Liu Pan, Che Fengyu, Shu Chang, Li Yarong, Liu Xiaoguai

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotypes and ATP7B gene variants among children patients with Wilson' s disease from Northwestern China. METHODS: The clinical features and variants of the ATP7B gene among 75 children with hepatic Wilson' s disease were retrospectively analyzed. RESULTS: Among the 75 cases, 4 were presymptomatic, 59 had isolated transaminase elevation, 12 had acute and/or chronic liver...

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PMID: 35446965
DOI: 10.3760/cma.j.cn511374-20201231-00926

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