Wilson's disease

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Wilson disease is an inheritable autosomal recessive disorder and is a result of mutations in the APT7B gene. The APT7B gene encodes a protein required to remove surplus copper from the body, mutations in this gene reduce the functionality of the transport protein resulting in harmful accumulation of copper in the body[1]

Reference

  1. http://ghr.nlm.nih.gov/condition/wilson-disease
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