Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects
PIH1D3 基因突变导致 X 连锁原发性纤毛运动障碍,并伴有内外动力蛋白臂缺陷
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.11.019
Tamara Paff, Niki T Loges, Isabella Aprea, Kaman Wu, Zeineb Bakey, Eric G Haarman, Johannes M A Daniels, Erik A Sistermans, Natalija Bogunovic, Gerard W Dougherty, Inga M Höben, Jörg Große-Onnebrink, Anja Matter, Heike Olbrich, Claudius Werner, Gerard Pals, Miriam Schmidts, Heymut Omran, Dimitra Mic