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

@article{Coffey2013AGS,
  title={A genetic study of Wilson's disease in the United Kingdom.},
  author={Alison J. Coffey and Miranda Durkie and Stephen Hague and Kirsten E McLay and Jennifer Emmerson and Christine Lo and Stefanie Klaffke and Christopher J. Joyce and Anil Dhawan and Nedim Hadzic and Giorgina Mieli-Vergani and Richard Kirk and K Elizabeth Allen and David B. G. Nicholl and Siew Wong and W. Griffiths and Sarah E Smithson and Nicola Jane Giffin and A S Taha and Sally Connolly and Godfrey T Gillett and Stuart Tanner and Jim R. Bonham and Basil Sharrack and Aarno V Palotie and Magnus Rattray and Ann E Dalton and Oliver Bandmann},
  journal={Brain : a journal of neurology},
  year={2013},
  volume={136 Pt 5},
  pages={1476-87}
}
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 of 116 different ATP7B mutations were detected, 32 of which are novel. The overall… CONTINUE READING
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An assessment of efficiency in potential screening for Wilson’s disease

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