Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription
智力障碍患者的纯合 TAF8 突变导致 TAF8 蛋白无法检测，但 RNA 聚合酶 II 转录得以保留
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddy126
Farrah El-Saafin, Cynthia Curry, Tao Ye, Jean-Marie Garnier, Isabelle Kolb-Cheynel, Matthieu Stierle, Natalie L Downer, Mathew P Dixon, Luc Negroni, Imre Berger, Tim Thomas, Anne K Voss, William Dobyns, Didier Devys, Laszlo Tora
