Article
A Special Case of Cirrhosis with a Novel ATP7B Mutation and Occult Chronic HBV Infection.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Oct 2021
Jiang Yongfang, Chen Mengxuan, Ruan Yelin, Ma Jing, Li Naiping
Abstract excerpt
Wilson's disease (WD) is an autosomal recessive disorder that affects copper metabolism. Mutations of the ATP7B gene have been found to be strongly associated with a risk of developing WD; and at present, more than 500 mutations have been reported in WD patients. The Arg778Leu and Arg952Lys mutations in exons 8 and 12, respectively, are highly prevalent in the Chinese population. However, early detection of WD is...
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