Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

Alexandros Onoufriadis, Tamara Paff, Dinu Antony, Amelia Shoemark, Dimitra Micha, Bertus Kuyt, Miriam Schmidts, Stavroula Petridi, Jeanette E. Dankert-Roelse, Eric G. Haarman, Johannes M.A. Daniels, Richard D. Emes, Robert Wilson, Claire Hogg, Peter J. Scambler, Eddie M.K. Chung, Gerard Pals (Lead / Corresponding author), Hannah M. Mitchison (Lead / Corresponding author)

Research output: Contribution to journal › Article › peer-review

157 Citations (Scopus)
12 Downloads (Pure)

Fingerprint

Dive into the research topics of 'Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia'. Together they form a unique fingerprint.

Keyphrases

Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology