Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations

Autor: Vincenzo Bonifati, Sylvia A. Eshuis, Klaus L. Leenders, Cristina Tassorelli, Jan Pieter M. Stroy, Wilson F. Abdo, Klaartje Van Engelen, Leonardo Lopiano, Saskia A. J. Lesnik-Oberstein, Peter Elfferich, Agnita J.W. Boon, Jan C.M. Zijlmans, J. Anneke Maat-Kievit, Bart P.C. van de Warrenburg, Dennis Dooijes, Rick van Minkelen, M.C.T. Verleun-Mooijman, Ad Hovestadt, John C. van Swieten, Corien C. Verschuuren-Bemelmans

Publikováno v: Neurogenetics, 12, 263-71
Neurogenetics, 12(4), 263-271. Springer-Verlag
Neurogenetics, 12, 4, pp. 263-71
neurogenetics, 12(4), 263-271
Neurogenetics, 12(4), 263-271. SPRINGER
Neurogenetics, 12(4), 263-271. Springer Verlag
Neurogenetics
Elfferich, P, Verleun-Mooijman, M C, Maat-Kievit, J A, Van De Warrenburg, B P C, Abdo, W F, Eshuis, S A, Leenders, K L, Hovestadt, A, Zijlmans, J C M, Stroy, J P M, Van Swieten, J C, Boon, A J W, Van Engelen, K, Verschuuren-Bemelmans, C C, Lesnik-Oberstein, S A J, Tassorelli, C, Lopiano, L, Bonifati, V, Dooijes, D & Van Minkelen, R 2011, ' Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations ', Neurogenetics, vol. 12, no. 4, pp. 263-271 . https://doi.org/10.1007/s10048-011-0302-9

Item does not contain fulltext 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. Altho

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87fec50ad5716d5c60771bbe70ac747e
http://hdl.handle.net/2066/97688