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Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD), characterized by chronic airway disease, infertility, and left-right laterality disturbances, usually as a result of loss of the outer dynein arms (ODAs) that power cilia/flagella beating. Here, we identify loss-of-fu...

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Détails bibliographiques
Auteurs principaux: Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, Johannes M.A., Emes, Richard D., Wilson, Robert, Hogg, Claire, Scambler, Peter J., Chung, Eddie M.K., Pals, Gerard, Mitchison, Hannah M.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2013
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3542455/
https://ncbi.nlm.nih.gov/pubmed/23261303
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.11.002
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