A genetic study of Wilson's disease in the United Kingdom.

doi:10.1093/brain/awt035

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Article

A genetic study of Wilson's disease in the United Kingdom.

Brain : a journal of neurology - 1 May 2013

Coffey Alison J, Durkie Miranda, Hague Stephen, McLay Kirsten, Emmerson Jennifer, Lo Christine, Klaffke Stefanie, Joyce Christopher J, Dhawan Anil, Hadzic Nedim, Mieli-Vergani Giorgina, Kirk Richard, Elizabeth Allen K, Nicholl David, Wong Siew, Griffiths William, Smithson Sarah, Giffin Nicola, Taha Ali, Connolly Sally, Gillett Godfrey T, Tanner Stuart, Bonham Jim, Sharrack Basil, Palotie Aarno, Rattray Magnus, Dalton Ann, Bandmann Oliver

Abstract excerpt

Previous studies have failed to identify mutations in the Wilson's disease gene ATP7B in a significant number of clinically diagnosed cases. This has led to concerns about genetic heterogeneity for this condition but also suggested the presence of unusual mutational mechanisms. We now present our findings in 181 patients from the United Kingdom with clinically and biochemically confirmed Wilson's disease. A total...

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PMID: 23518715
DOI: 10.1093/brain/awt035
PMCID: PMC3634195

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