Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms
SPAG1基因突变会导致原发性纤毛运动障碍,并伴有外动力蛋白臂和内动力蛋白臂缺陷。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2013.07.025
Knowles, Michael R; Ostrowski, Lawrence E; Loges, Niki T; Hurd, Toby; Leigh, Margaret W; Huang, Lu; Wolf, Whitney E; Carson, Johnny L; Hazucha, Milan J; Yin, Weining; Davis, Stephanie D; Dell, Sharon D; Ferkol, Thomas W; Sagel, Scott D; Olivier, Kenneth N; Jahnke, Charlotte; Olbrich, Heike; Werner, Claudius; Raidt, Johanna; Wallmeier, Julia; Pennekamp, Petra; Dougherty, Gerard W; Hjeij, Rim; Gee, Heon Yung; Otto, Edgar A; Halbritter, Jan; Chaki, Moumita; Diaz, Katrina A; Braun, Daniela A; Porath, Jonathan D; Schueler, Markus; Baktai, György; Griese, Matthias; Turner, Emily H; Lewis, Alexandra P; Bamshad, Michael J; Nickerson, Deborah A; Hildebrandt, Friedhelm; Shendure, Jay; Omran, Heymut; Zariwala, Maimoona A