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Article

Diverse functional properties of Wilson disease ATP7B variants.

Gastroenterology - 1 Apr 2012

Huster Dominik, Kühne Angelika, Bhattacharjee Ashima, Raines Lily, Jantsch Vanessa, Noe Johannes, Schirrmeister Wiebke, Sommerer Ines, Sabri Osama, Berr Frieder, Mössner Joachim, Stieger Bruno, Caca Karel, Lutsenko Svetlana

Abstract excerpt

BACKGROUND & AIMS: Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease. METHODS: We analyzed 28 variants of ATP7B from...

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Identifiers

PMID: 22240481
DOI: 10.1053/j.gastro.2011.12.048
PMCID: PMC3461965

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Source receipt: pubmed, retrieved 7 Sept 2026.

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