LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV
16q24.1 区域存在含有 LINE 和 Alu 元件的基因组不稳定性热点,与导致 ACDMPV 的复发性和非复发性 CNV 缺失相关。
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23608
Szafranski, Przemyslaw; Kośmider, Ewelina; Liu, Qian; Karolak, Justyna A; Currie, Lauren; Parkash, Sandhya; Kahler, Stephen G; Roeder, Elizabeth; Littlejohn, Rebecca O; DeNapoli, Thomas S; Shardonofsky, Felix R; Henderson, Cody; Powers, George; Poisson, Virginie; Bérubé, Denis; Oligny, Luc; Michaud, Jacques L; Janssens, Sandra; De Coen, Kris; Van Dorpe, Jo; Dheedene, Annelies; Harting, Matthew T; Weaver, Matthew D; Khan, Amir M; Tatevian, Nina; Wambach, Jennifer; Gibbs, Kathleen A; Popek, Edwina; Gambin, Anna; Stankiewicz, Paweł