A genetic study of Wilson’s disease in the United Kingdom

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

doi:10.1093/brain/awt035

Public

A genetic study of Wilson’s disease in the United Kingdom

Published in Brain • Mar 21, 2013

Authors:

Alison J. Coffey

Miranda Durkie

Stephen Hague

Abstract

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 fi...

Subject

Wilson's disease

Genetics

Compound heterozygosity

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