Genetics of Wilsons disease.

Abstract excerpt

Wilson's disease is a rare autosomal recessive disorder of copper transport due to mutations in the ATP7B gene, responsible for transport of copper into bile from hepatocytes and its incorporation into apoceruloplasmin to form ceruloplasmin resulting in excessive accumulation of copper in the liver and extrahepatic tissues. Clinical features of WD result from toxic accumulation of copper in liver, brain and...

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