Open AccessInfluence of Homozygosity for Methionine at Codon 129 of the Human Prion Gene on the Onset of Neurological and Hepatic Symptoms in Wilson Disease
Author(s) -
Uta Merle,
Wolfgang Stremmel,
Reinhard Geßner
Publication year - 2006
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.63.7.982
Subject(s) - methionine , genotype , allele , valine , disease , wilson's disease , gastroenterology , medicine , age of onset , gene , phenotype , biology , pathology , genetics , amino acid
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.
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