- Original Article
- Identification of Novel Mutations and Three Most Common Mutations in the Human ATP7B Gene of Korean Patients with Wilson Disease
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Han-Wook Yoo, Gu-Hwan Kim, Ji-Won Chung, Chang-Yeon Lee, Kyung-Mo Kim
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Clin Exp Pediatr. 2001;44(5):569-576. Published online May 15, 2001
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Purpose : Wilson disease is an autosomal recessive disorder of copper transport, which is probably
the most common inherited metabolic disorder in Korea. It is characterized by defective biliary
excretion of copper and impairment in the corporation of copper into ceruloplasmin. In Wilson disease,
synthesis of a defective copper transporting enzyme leads to the accumulation of copper in
the liver, brain and kidney. The... |
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