Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.

@article{Wei2014MutationalCO,
  title={Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.},
  author={Zhisheng Wei and Yeqing Huang and Aiqun Liu and Shengpeng Diao and Qingyun Yu and Zhongxing Peng and Ming-fan Hong},
  journal={Neuroreport},
  year={2014},
  volume={25 14},
  pages={1075-80}
}
Wilson's disease (WD) is an autosomal recessive inheritance disorder of copper metabolism due to mutations in the ATP7B gene. The distribution of ATP7B gene mutations is diverse in different population. This study aimed to examine the genotypes of the ATP7B mutant alleles in WD patients from Southern China. Genomic DNA was extracted from 103 WD patients and 60 healthy patients. Mutations were screened and detected by DNA sequencing. A total of 51 different ATP7B mutations were identified in WD… CONTINUE READING
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