C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia
C11orf70 突变破坏了鞭毛内运输依赖的多种轴丝动力蛋白组装,导致原发性纤毛运动障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.03.024
Mahmoud R Fassad, Amelia Shoemark, Pierrick le Borgne, France Koll, Mitali Patel, Mellisa Dixon, Jane Hayward, Charlotte Richardson, Emily Frost, Lucy Jenkins, Thomas Cullup, Eddie M K Chung, Michel Lemullois, Anne Aubusson-Fleury, Claire Hogg, David R Mitchell, Anne-Marie Tassin, Hannah M Mitchison