Article
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Molecular genetics & genomic medicine - 1 Sept 2021
Xiao Zhongyan, Yang Yuan, Huang Hui, Tang Haiyan, Liu Liqun, Tang Jianguang, Shi Xiaoliu
Abstract excerpt
BACKGROUND: Wilson's disease (WD) is a rare autosomal recessive inherited disorder that is induced by defects of the ATP7B gene and characterized by damage to the liver and nervous system caused by aberrant copper metabolism. The identification of pathogenic mutations on two homologous chromosomes has become the gold standard for the diagnosis of WD. METHODS: Sanger sequencing and multiplex ligation-dependent...
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