Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms

Michael R Knowles, Lawrence E Ostrowski, Niki T Loges, Toby Hurd, Margaret W Leigh, Lu Huang, Whitney E Wolf, Johnny L Carson, Milan J Hazucha, Weining Yin, Stephanie D Davis, Sharon D Dell, Thomas W Ferkol, Scott D Sagel, Kenneth N Olivier, Charlotte Jahnke, Heike Olbrich, Claudius Werner, Johanna Raidt, Julia WallmeierPetra Pennekamp, Gerard W Dougherty, Rim Hjeij, Heon Yung Gee, Edgar A Otto, Jan Halbritter, Moumita Chaki, Katrina A Diaz, Daniela A Braun, Jonathan D Porath, Markus Schueler, György Baktai, Matthias Griese, Emily H Turner, Alexandra P Lewis, Michael J Bamshad, Deborah A Nickerson, Friedhelm Hildebrandt, Jay Shendure, Heymut Omran, Maimoona A Zariwala

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Biochemistry, Genetics and Molecular Biology