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1. Molecular Genetics Diagnosis of Wilson Disease: the First Reported Case of ATP7BGene Mutation at Codon 778 in Southwest Iran

Hamid Galehdari; Raheleh Tangestani

Volume 7, Issue 4 , Summer 2012, , Pages 262-266

Abstract
  Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer ...  Read More