Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.

@article{Wu2001MutationAA,
  title={Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.},
  author={Zunyou Wu and Ning Wang and Mark T Lin and Li-juan Fang and Shen Xing Murong and Lei Yu},
  journal={Archives of neurology},
  year={2001},
  volume={58 6},
  pages={
          971-6
        }
}
BACKGROUND The defective gene (ATP7B) that causes Wilson disease (WD) codes for a putative copper-transporting P-type adenosine triphosphatase. After cloning of ATP7B, the spectrum of mutations and their clinical consequences have been investigated in patients with WD in different ethnic populations. However, the spectrum of mutations and the correlation of genotype-phenotype in the Chinese population have not been extensively studied. OBJECTIVE To investigate the characterization of… CONTINUE READING
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High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease

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