TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella
TTC12 功能丧失突变导致原发性纤毛运动障碍,并揭示运动纤毛与鞭毛中不同的动力蛋白组装机制
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.12.010
Lucie Thomas, Khaled Bouhouche, Marjorie Whitfield, Guillaume Thouvenin, Andre Coste, Bruno Louis, Claire Szymanski, Emilie Bequignon, Jean-François Papon, Manon Castelli, Michel Lemullois, Xavier Dhalluin, Valérie Drouin-Garraud, Guy Montantin, Sylvie Tissier, Philippe Duquesnoy, Bruno Copin, Flore