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Case-Control Study of the Parkin Gene in Early-Onset Parkinson Disease
Author(s) -
Lorraine N. Clark,
Shehla Afridi,
Eric Karlins,
Yuanjia Wang,
Helen MejiaSantana,
Juliette Harris,
Elan D. Louis,
Lucien Côté,
Howard Andrews,
Stanley Fahn,
Cheryl Waters,
Blair Ford,
Steven J. Frucht,
Ruth Ottman,
Karen Marder
Publication year - 2006
Publication title -
archives of neurology
Language(s) - English
Resource type - Journals
eISSN - 1538-3687
pISSN - 0003-9942
DOI - 10.1001/archneur.63.4.548
Subject(s) - parkin , exon , compound heterozygosity , genetics , heterozygote advantage , mutation , biology , parkinson's disease , mutation frequency , gene , disease , medicine , allele
Mutations in parkin are estimated to account for as much as 50% of familial Parkinson disease (PD) and 18% of sporadic PD. Single heterozygous mutations in parkin in both familial and sporadic cases may also increase susceptibility to PD. To our knowledge, all previous studies have been restricted to PD cases; this is the first study to systematically screen the parkin coding regions and exon deletions and duplications in controls.

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