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scopus: 12753170900

Zijlmans, J.C.M.

(Jan Zijlmans)


deletion parkin mutation patient /duplication family deletions /duplications analysis duplication parkinson study disease rearrangement haplotype result 4 del +/ breakpoint table exon 7 duplication parkin deletions /duplications 5-6 del +/ department deletion /duplication 4 del -/ netherland genetic mlpa results tremor parkin gene exon 4 deletion probe center marker founder parkinsonism founder effect region neurogenetic pcr products exon rearrangements +/- allele polymorphic microsatellite markers abi 3730 xl test family members exon deletions /duplications technique rigidity agid y michele g early-onset meco g recessive 5-6del vieregge p parkin mutations index patients biosystem effect genet index neurology bonifati university bradykinesia screening primer primers mapping product european consortium onset syndrome ozelius lj haplotype analysis sample gene dosage studies kann m polymerase chain reaction early-onset parkinson disease




1 Most Recent Publications

Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations (Article)
Elfferich, P.C. Verleun-Mooijman, M.C. Swieten, J.C. van Boon, A.J.W. Engelen, K. van Verschuuren-Bemelmans, C.C. Lesnik-Oberstein, S.A.J. Tassorelli, C. Lopiano, L. Bonifati, V. Dooijes, D. Minkelen, R. van Maat-Kievit, A.A. Warrenburg, B. van de Abdo, W.F. Eshuis, S.A. Leenders, K.L. Hovestadt, A. Zijlmans, J.C.M. Stroy, J.-P.M.
2011-11-01