Article
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
Journal of hepatology - 1 Nov 2004
Stapelbroek Janneke M, Bollen Casper W, van Amstel Johannes K Ploos, van Erpecum Karel J, van Hattum Jan, van den Berg Leonard H, Klomp Leo W J, Houwen Roderick H J
Abstract excerpt
BACKGROUND AND AIMS: Wilson disease is an hereditary disorder of copper metabolism, caused by mutations in the ATP7B gene, and leading to hepatic or neurologic disease. We examined whether H1069Q, the most common ATP7B mutation, is associated with a specific phenotype. METHODS: Genotyping results...
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