Article
Monozygotic female twins discordant for phenotype of Wilson's disease.
Movement disorders : official journal of the Movement Disorder Society - 15 May 2009
Członkowska Anna, Gromadzka Grazyna, Chabik Grzegorz
Abstract excerpt
Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of the copper-transporting protein adenosine triphosphatase 7B (ATP-ase 7B). The disease is caused by mutations in ATP7B gene. It seems that the type of mutation in ATP7B only to some degree determ...
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