| 1 | ICS29, SPAG1 |
| Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. | |
| Knowles MR, Ostrowski LE, Loges NT, Hurd T, Leigh MW, Huang L, Wolf WE, Carson JL, Hazucha MJ, Yin W, Davis SD, Dell SD, Ferkol TW, Sagel SD, Olivier KN, Jahnke C, Olbrich H, Werner C, Raidt J, Wallmeier J, Pennekamp P, Dougherty GW, Hjeij R, Gee HY, Otto EA, Halbritter J, Chaki M, Diaz KA, Braun DA, Porath JD, Schueler M, Baktai G, Griese M, Turner EH, Lewis AP, Bamshad MJ, Nickerson DA, Hildebrandt F, Shendure J, Omran H, Zariwala MA. | |
| Am J Hum Genet 93(4):711-20. doi: 10.1016/j.ajhg.2013.07.025. Epub 2013 Sep 19. 2013 | |