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Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations by Xin-Hua Li; Yi Lu; Yun Ling; Qing-Chun Fu; Jie Xu; Guo-Qing Zang; Feng Zhou; Yu De-Min; Yue Han; Dong-Hua Zhang; Qi-Ming Gong; Zhi-Meng Lu; Xiao-Fei Kong; Jian-She Wang; Xin-Xin Zhang is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations about?
## 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 = 25; age range, 2 ~ 61 years old). ## Results Neurologic manifestations were associated with older age at diagnosis (p < 0.0001) and longer diagnostic delay (p < 0.0001). Age at diagnosis was also correlated with urinary copper concentration (r = 0.58, p < 0.001). Forty different mutations, including 14 novel mutations, were identified in these patients. Common mutations included p.Arg778Leu (31.9%) and p.Pro992Leu (11.2%). Homozygous p.Arg778Leu and nonsense mutation/frameshift mutations were more often associated with primary hepatic manifestations (p = 0.0286 and p = 0.0383, respectively) and higher alanine transaminase levels at diagnosis (p = 0.0361 and p = 0.0047, respectively). Nonsense mutation/frameshift mutations were also associated with lower serum c
Who reads Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Xin-Hua Li; Yi Lu; Yun Ling; Qing-Chun Fu; Jie Xu; Guo-Qing Zang; Feng Zhou; Yu De-Min; Yue Han; Dong-Hua Zhang; Qi-Ming Gong; Zhi-Meng Lu; Xiao-Fei Kong; Jian-She Wang; Xin-Xin Zhang
- Publisher
- BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2000-; Springer Science and Business Media LLC (ISSN 1471-2350)
- Published
- 2011
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)