Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling
ELMO2 功能缺失突变通过阻碍 RAC1 信号传导导致骨内血管畸形
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.06.008
Arda Cetinkaya ,Jingwei Rachel Xiong ,İbrahim Vargel ,Kemal Kösemehmetoğlu ,Halil İbrahim Canter ,Ömer Faruk Gerdan ,Nicola Longo ,Ahmad Alzahrani ,Mireia Perez Camps ,Ekim Zihni Taskiran ,Simone Laupheimer ,Lorenzo D Botto ,Eeswari Paramalingam ,Zeliha Gormez ,Elif Uz ,Bayram Yuksel ,Şevket Ruacan ,Mahmut Şamil Sağıroğlu ,Tokiharu Takahashi ,Bruno Reversade ,Nurten Ayse Akarsu