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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
ATP7B
gene.
Cater MA, Forbes J, La Fontaine S, Cox D, Mercer JF. Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites. Biochem J. 2004 Jun 15;380(Pt 3):805-13.
PubMed citation
Entrez
Gene
Fatemi N, Sarkar B. Molecular mechanism of copper transport in Wilson disease. Environ Health Perspect. 2002 Oct;110 Suppl 5:695-8. Review.
PubMed citation
Ferenci P. Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing. Hum Genet. 2006 Sep;120(2):151-9. Epub 2006 Jun 22. Review.
PubMed citation
Huster D, Hoppert M, Lutsenko S, Zinke J, Lehmann C, Mössner J, Berr F, Caca K. Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines. Gastroenterology. 2003 Feb;124(2):335-45.
PubMed citation
Kitzberger R, Madl C, Ferenci P. Wilson disease. Metab Brain Dis. 2005 Dec;20(4):295-302. Review.
PubMed citation
Langner C, Denk H. Wilson disease. Virchows Arch. 2004 Aug;445(2):111-8. Epub 2004 Jun 17. Review.
PubMed citation
Panagiotakaki E, Tzetis M, Manolaki N, Loudianos G, Papatheodorou A, Manesis E, Nousia-Arvanitakis S, Syriopoulou V, Kanavakis E. Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B). Am J Med Genet A. 2004 Dec 1;131(2):168-73.
PubMed citation
Reviewed: February 2007
Published: June 17, 2013
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