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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...

Бүрэн тодорхойлолт

-д хадгалсан:
Номзүйн дэлгэрэнгүй
Үндсэн зохиолчид: 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
Формат: Artigo
Хэл сонгох:Inglês
Хэвлэсэн: Public Library of Science (PLoS) 2013-01-01
Цуврал:PLoS ONE
Онлайн хандалт:http://europepmc.org/articles/PMC3753302?pdf=render
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