CCDC65 Mutation Causes Primary Ciliary Dyskinesia with Normal Ultrastructure and Hyperkinetic Cilia

BACKGROUND: 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...

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書誌詳細
主要な著者: Horani, Amjad, Brody, Steven L., Ferkol, Thomas W., Shoseyov, David, Wasserman, Mollie G., Ta-shma, Asaf, Wilson, Kate S., Bayly, Philip V., Amirav, Israel, Cohen-Cymberknoh, Malena, Dutcher, Susan K., Elpeleg, Orly, Kerem, Eitan
フォーマット: Artigo
言語:Inglês
出版事項: Public Library of Science 2013
主題:
Research Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3753302/
https://ncbi.nlm.nih.gov/pubmed/23991085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0072299
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