Genetic aspects of Wilson's disease

Abstract excerpt

Wilson's disease is an autosomal recessive, inborn error of copper metabolism. The basic defect is unknown but decreased biliary excretion of copper is associated with copper accumulation and damage to the liver, brain and other organs with variable clinical expression. The gene for the disease has been mapped to band 14.1-21.1 of the long arm of chromosome 13, and an increasing number of flanking DNA markers has...