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Distribution, type, and origin of <i>Parkin</i> mutations: Review and case studies

9 Jul 2004

Abstract excerpt

Early-onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that demonstrated two prominent types of mutations among 379 unrelated mutation carriers: exon rearrangements involving exon 3, 4, or both, and alterations in exons 2 and 7, suggesting mutational hot spots...

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Identifiers

PMID: 15390068
DOI: 10.1002/mds.20234

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