Wilson's disease: Difference between revisions
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Wilson disease is an inheritable autosomal [ | Wilson disease is an inheritable autosomal [[Recessive_disorder|recessive disorder]] and is a result of mutations in the [[APT7B gene|APT7B gene]]. The APT7B gene encodes a [[protein|protein]] required to remove surplus [[copper|copper]] from the body, [[Mutations|mutations]] in this gene reduce the functionality of the transport protein resulting in harmful accumulation of copper in the body<ref>http://ghr.nlm.nih.gov/condition/wilson-disease</ref>. | ||
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Latest revision as of 18:04, 2 December 2015
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].