Article
Parkin analysis in early onset Parkinson's disease.
Parkinsonism & related disorders - 1 Jan 2008
Sironi Francesca, Primignani Paola, Zini Michela, Tunesi Sara, Ruffmann Claudio, Ricca Sara, Brambilla Tiziana, Antonini Angelo, Tesei Silvana, Canesi Margherita, Zecchinelli Anna, Mariani Claudio, Meucci Nicoletta, Sacilotto Giorgio, Cilia Roberto, Isaias Ioannis U, Garavaglia Barbara, Ghezzi Daniele, Travi Maurizio, Decarli Adriano, Coviello Domenico A, Pezzoli Gianni, Goldwurm Stefano
Abstract excerpt
We analysed the parkin gene in a large consecutive series (146) of unrelated early onset Parkinson's disease (onset ?40 years of age) patients. Twelve cases (8.2%) had homozygous or compound heterozygous point mutations and/or exon rearrangements, while a single mutation was found in four subjects (2.7%). We identified eight exon rearrangements and nine point mutations, two of which were novel: c.735delT...
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