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Neurosci Lett. 2005 Jun 3;380(3):257-9. Epub 2005 Feb 8.

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.

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  • 1Laboratory of Neurogenetics, Department of Neuroscience, Birdsall Bldg., Room 206, Mayo Clinic, Jacksonville, FL 32224, USA.

Abstract

Autosomal recessive mutations in the parkin gene are the predominant cause of familial, early-onset parkinsonism; missense mutations involving one or a few nucleotides, exonic deletions and duplications have been described. Here we report a family with two affected brothers. Direct sequencing of parkin did not detect mutations, but semi-quantitative analysis identified a novel exonic rearrangement of exons 2-4. Both patients were homozygous for unique genomic triplications of the parkin gene.

PMID:
15862897
[PubMed - indexed for MEDLINE]
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