Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
轴丝外动力蛋白臂对接复合体基因 CCDC114 的剪接位点突变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.2012.11.002
Alexandros Onoufriadis, Tamara Paff, Dinu Antony, Amelia Shoemark, Dimitra Micha, Bertus Kuyt, Miriam Schmidts, Stavroula Petridi, Jeanette E Dankert-Roelse, Eric G Haarman, Johannes M A Daniels, Richard D Emes, Robert Wilson, Claire Hogg, Peter J Scambler, Eddie M K Chung; UK10K; Gerard Pals, Hanna