CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.
Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by impaired ciliary function, leading to chronic sinopulmonary disease. The genetic causes of PCD are still evolving, while the diagnosis is often dependent on finding a ciliary ultrastructural abnormality and immotile cilia. Here...
Main Authors: | Amjad Horani, Steven L Brody, Thomas W Ferkol, David Shoseyov, Mollie G Wasserman, Asaf Ta-shma, Kate S Wilson, Philip V Bayly, Israel Amirav, Malena Cohen-Cymberknoh, Susan K Dutcher, Orly Elpeleg, Eitan Kerem |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2013-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3753302?pdf=render |
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