A recurrent de novo missense mutation in UBTF causes developmental neuroregression
UBTF 中反复出现的新生错义突变导致发育性神经退化
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddx435
Camilo Toro, Roderick T Hori, May Christine V Malicdan, Cynthia J Tifft, Amy Goldstein, William A Gahl, David R Adams, Harper B Fauni, Lynne A Wolfe, Jianfeng Xiao, Mohammad M Khan, Jun Tian, Kevin A Hope, Lawrence T Reiter, Michel G Tremblay, Tom Moss, Alexis L Franks, Chris Balak; C4RCD Research G