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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主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2013
主題:
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オンライン･アクセス: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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