Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.
American Journal Of Human Genetics
Knowles, Michael R MR; Ostrowski, Lawrence E LE; Loges, Niki T NT; Hurd, Toby T; Leigh, Margaret W MW; Huang, Lu L; Wolf, Whitney E WE; Carson, Johnny L JL; Hazucha, Milan J MJ; Yin, Weining W; Davis, Stephanie D SD; Dell, Sharon D SD; Ferkol, Thomas W TW; Sagel, Scott D SD; Olivier, Kenneth N KN; Jahnke, Charlotte C; Olbrich, Heike H; Werner, Claudius C; Raidt, Johanna J; Wallmeier, Julia J; Pennekamp, Petra P; Dougherty, Gerard W GW; Hjeij, Rim R; Gee, Heon Yung HY; Otto, Edgar A EA; Halbritter, Jan J; Chaki, Moumita M; Diaz, Katrina A KA; Braun, Daniela A DA; Porath, Jonathan D JD; Schueler, Markus M; Baktai, György G; Griese, Matthias M; Turner, Emily H EH; Lewis, Alexandra P AP; Bamshad, Michael J MJ; Nickerson, Deborah A DA; Hildebrandt, Friedhelm F; Shendure, Jay J; Omran, Heymut H; Zariwala, Maimoona A MA