Journal
PARKINSONISM & RELATED DISORDERS
Volume 12, Issue 4, Pages 239-245Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2005.12.004
Keywords
Parkin mutations; Parkinson's disease; Indian population; young onset PD; late onset PD; familial PD
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We observed a mutation frequency of 8.5% in Parkin gene among Indian PD patients based on sequencing and gene dosage analysis of its exons. We identified nine point mutations of which seven are novel and hitherto unreported. These mutations accounted for 14.3% familial PD, 6.9% young onset and 5.9% late onset sporadic PD. Of the 20 PD patients with mutations only two had homozygous mutations and one was a compound heterozygote. Homozygous exonic deletions were absent but heterozygous exon rearrangements were observed in 9.2% of patients (19% familial PD and 4.5% young onset sporadic PD). (c) 2006 Elsevier Ltd. All rights reserved.
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