Article
Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations.
BMC medical genetics - 11 Jan 2011
Li Xin-Hua, Lu Yi, Ling Yun, Fu Qing-Chun, Xu Jie, Zang Guo-Qing, Zhou Feng, De-Min Yu, Han Yue, Zhang Dong-Hua, Gong Qi-Ming, Lu Zhi-Meng, Kong Xiao-Fei, Wang Jian-She, Zhang Xin-Xin
Abstract excerpt
BACKGROUND: Wilson's disease (WND) is a rare autosomal recessive disorder. Here we have evaluated 62 WND cases (58 probands) from the Chinese Han population to expand our knowledge of ATP7B mutations and to more completely characterize WND in China. METHODS: the coding and promoter regions of the ATP7B gene were analyzed by direct sequencing in 62 Chinese patients (58 probands) with WND (male, n = 37; female, n =...
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