Wilson Disease Mutations in the American Population: Identification of Five Novel Mutations in ATP7B

  • Kuppala D
  • Deng J
  • Brewer G
  • et al.
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Abstract

Wilson disease is an autosomal recessive disorder characterized by toxic accumulation of copper in a number of organs such as liver and brain, which results in significant disability or death if left untreated. Wilson disease is caused by mutations in ATP7B, a copper …

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Kuppala, D., Deng, J., Brewer, G. J., Wang, M. M., & Borjigin, J. (2009). Wilson Disease Mutations in the American Population: Identification of Five Novel Mutations in ATP7B. The Open Hepatology Journal, 1(1), 1–4. https://doi.org/10.2174/1876517300901010001

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