Article
Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease.
Archives of neurology - 1 Jul 2006
Merle Uta, Stremmel Wolfgang, Gessner Reinhard
Abstract excerpt
BACKGROUND: The clinical heterogeneity of Wilson disease expression cannot be fully explained by the various mutations of the Wilson disease gene. The prion-related protein (PrP) has been shown to bind copper in vitro and might therefore influence Wilson disease. OBJECTIVE: To examine the effect of the PrP polymorphism at codon 129, resulting in either methionine or valine (M129V), on the clinical phenotype of...
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