Article
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.
Neurogenetics - 1 Nov 2011
Elfferich Peter, Verleun-Mooijman Marja C, Maat-Kievit J Anneke, van de Warrenburg Bart P C, Abdo Wilson F, Eshuis Sylvia A, Leenders Klaus L, Hovestadt Ad, Zijlmans Jan C M, Stroy Jan-Pieter M, van Swieten John C, Boon Agnita J W, van Engelen Klaartje, Verschuuren-Bemelmans Corien C, Lesnik-Oberstein Saskia A J, Tassorelli Cristina, Lopiano Leonardo, Bonifati Vincenzo, Dooijes Dennis, van Minkelen Rick
Abstract excerpt
Early-onset Parkinson's disease (EOPD) has been associated with recessive mutations in parkin (PARK2). About half of the mutations found in parkin are genomic rearrangements, i.e., large deletions or duplications. Although many different rearrangements have been found in parkin before, the exact breakpoints involving these rearrangements are rarely mapped. In the present study, the exact breakpoints of 13...
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