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Updated: Aug 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
[From gene to disease; Wilson disease: copper storage due to mutations in ATP7B]
J M Stapelbroek1, J K Ploos van Amstel, J van Hattum
1Afd. Kindergastro-enterologie, Universitair Medisch Centrum Utrecht, Postbus 85.090, 3508 AB Utrecht.
Abstract:
Wilson disease is an autosomal recessive disorder of copper metabolism. The gene defective in Wilson disease encodes a copper transporting P-type ATPase expressed in the liver. The disturbed export of copper into bile results in accumulation of copper in liver and secondarily in other organs such as the brain. These patients generally present with either hepatic or neurological symptoms.
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