Article
Complex relationship between Parkin mutations and Parkinson disease.
American journal of medical genetics - 8 Jul 2002
West Andrew, Periquet Magali, Lincoln Sarah, Lücking Christoph B, Nicholl David, Bonifati Vincenzo, Rawal Nina, Gasser Thomas, Lohmann Ebba, Deleuze Jean-François, Maraganore Demetrius, Levey Allan, Wood Nick, Dürr Alexandra, Hardy John, Brice Alexis, Farrer Matt
Abstract excerpt
Mutations in the Parkin gene cause juvenile and early onset Parkinsonism. While Parkin-related disease is presumed to be an autosomal-recessive disorder, cases have been reported where only a single Parkin allele is mutated and raise the possibility of a dominant effect. In this report, we re-evaluate twenty heterozygous cases and extend the mutation screening to include the promoter and intron/exon boundaries....
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