Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference58 articles.
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2. Hepatic copper-transporting ATPase ATP7B: function and inactivation at the molecular and cellular level;Bartee;Biometals,2007
3. Wilson disease and Menkes disease: new handles on heavy-metal transport;Bull;Trends Genet,1994
4. The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene;Bull;Nat Genet,1993
5. Molecular diagnosis of Wilson disease;Butler;Mol Genet Metab,2001
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3. Biochemical regulation and structural analysis of copper‐transporting ATPase in a human hepatoma cell line for Wilson disease;Journal of Cellular Biochemistry;2019-07-09
4. Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants;Human Mutation;2019-02-14
5. Direct Determination of Non-Ceruloplasmin-Bound Copper in Plasma;Clinical and Translational Perspectives on WILSON DISEASE;2019
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