Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex
功能丧失的 GAS8 突变导致原发性纤毛运动障碍并破坏 Nexin-Dynein 调节复合物
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.08.012
Heike Olbrich, Carolin Cremers, Niki T Loges, Claudius Werner, Kim G Nielsen, June K Marthin, Maria Philipsen, Julia Wallmeier, Petra Pennekamp, Tabea Menchen, Christine Edelbusch, Gerard W Dougherty, Oliver Schwartz, Holger Thiele, Janine Altmüller, Frank Rommelmann, Heymut Omran