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Article

p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2006

Gromadzka Graznya, Schmidt Harmut H J, Genschel Janine, Bochow Bettina, Rodo M, Tarnacka Beatek, Litwin Thomas, Chabik Grzegorz, Członkowska Anna

Abstract excerpt

We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the phenotypic expression of Wilson's disease (WD), and assessed whether the clinical phenotype of WD in compound heterozygotes depends on the type of mutation coexisting with the p.H1069Q. One hundred forty-two patients with clinically, biochemically, and genetically diagnosed WD were studied. The mutational analysis of...

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PMID: 16211609
DOI: 10.1002/mds.20671

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