2012•Nature GeneticsOpen access

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms

Jennifer R. Panizzi, Anita Becker-Heck, Victoria Castleman, Dalal A. Al-Mutairi, Yan Liu, Niki T. Loges, Narendra H. Pathak, Christina Anne Austin-Tse, Eamonn G. Sheridan, Miriam Schmidts, Heike Olbrich, Claudius Werner, Karsten Häffner, Nathan E. Hellman, Rahul Chodhari, Amar C. Gupta, Albrecht G. Kramer-Zucker, Felix Olale, Rebecca D. Burdine, Alexander Franz Schier, Christopher O’Callaghan, Eddie M.K. Chung, Richard Reinhardt, Hannah M. Mitchison, Stephen M. King, Heymut Omran, Iain A. S. Drummond

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Key concepts: Primary ciliary dyskinesia, Cilium, Dynein, Biology, Ciliogenesis, Axoneme, Motile cilium, Intraflagellar transport