Article
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
Journal of human genetics - 1 Feb 2013
Li Kui, Zhang Wei-Min, Lin Sheng, Wen Lu, Wang Zi-Feng, Xie Dan, Wei Min, Qiu Zheng-Qing, Dai Yi, Lin Marie C M, Kung Hsiang-Fu, Yao Feng-Xia
Abstract excerpt
Wilson disease (WD) is an autosomal recessive inherited disease caused by abnormalities of the copper-transporting protein encoding gene ATP7B. In this study, we examined ATP7B for mutations in 114 individuals of Chinese Han population living in north China who were diagnosed as WD. Totally, we identified 36 mutations and 11 single-nucleotide polymorphisms (SNPs), of which 14 mutations have never been reported...
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