Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?

@article{Forbes1998FunctionalCO,
  title={Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?},
  author={J. Russell Forbes and Diane Wilson Cox},
  journal={American journal of human genetics},
  year={1998},
  volume={63 6},
  pages={
          1663-74
        }
}
  • J. Russell Forbes, Diane Wilson Cox
  • Published in
    American journal of human…
    1998
  • Biology, Medicine
  • Wilson disease is an autosomal recessive disorder of copper transport that causes hepatic and/or neurological disease resulting from copper accumulation in the liver and brain. The protein defective in this disorder is a putative copper-transporting P-type ATPase, ATP7B. More than 100 mutations have been identified in the ATP7B gene of patients with Wilson disease. To determine the effect of Wilson disease missense mutations on ATP7B function, we have developed a yeast complementation assay… CONTINUE READING

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