Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
Aristaless相关同源异型盒的核定位序列发生突变;突变型ARX与IPO13的结合破坏了转录因子的正常亚细胞分布,并阻碍了细胞分裂。
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doi:10.1186/1755-8417-3-1
Shoubridge, Cheryl; Tan, May Huey; Fullston, Tod; Cloosterman, Desiree; Coman, David; McGillivray, George; Mancini, Grazia M; Kleefstra, Tjitske; Gécz, Jozef