1.
Hjeij R, Onoufriadis A, Watson C, Slagle C, Klena N, Dougherty G, Kurkowiak M, Loges N, Diggle C, Morante N, Gabriel G, Lemke K, Li Y, Pennekamp P, Menchen T, Konert F, Marthin J, Mans D, Letteboer S, Werner C, Burgoyne T, Westermann C, Rutman A, Carr I, O’Callaghan C, Moya E, Chung E, UK10K Consortium, Sheridan E, Nielsen K, Roepman R, Bartscherer K, Burdine R, Lo C, Omran H, Mitchison H.
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Am J Hum Genet. 2014;95(3):257–74. PMCID: PMC4157146