Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations
对 13 个大型帕金基因缺失/重复突变进行断点定位,结果显示外显子 4 缺失和外显子 7 重复是始祖突变。
期刊:Neurogenetics
影响因子:1.2
doi:10.1007/s10048-011-0302-9
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