Article
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
PloS one - 1 Jan 2013
Gu Shaojuan, Yang Huarong, Qi Yong, Deng Xiong, Zhang Le, Guo Yi, Huang Qing, Li Jing, Shi Xiaoliu, Song Zhi, Deng Hao
Abstract excerpt
Wilson's disease (WD) is an autosomal recessive inherited disorder caused by mutations in the ATPase Cu(2+) transporting beta polypeptide gene (ATP7B). The detailed metabolism of copper-induced pathology in WD is still unknown. Gene mutations as well as the possible pathways involved in the ATP7B deficiency were documented. The ATP7B gene was analyzed for mutations in 18 Chinese Han families with WD by direct...
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