Mutations of DNAH11 in Primary Ciliary Dyskinesia Patients with Normal Ciliary Ultrastructure

RATIONALE: Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically heterogeneous disorder characterized by oto-sino-pulmonary disease and situs abnormalities (Kartagener syndrome) due to abnormal structure and/or function of cilia. Most patients currently recognized to have PCD have...

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Main Authors: Knowles, Michael R, Leigh, Margaret W, Carson, Johnny L, Davis, Stephanie D, Dell, Sharon D, Ferkol, Thomas W, Olivier, Kenneth N, Sagel, Scott D, Rosenfeld, Margaret, Burns, Kimberlie A., Minnix, Susan L, Armstrong, Michael C, Lori, Adriana, Hazucha, Milan J, Loges, Niki T, Olbrich, Heike, Becker-Heck, Anita, Schmidts, Miriam, Werner, Claudius, Omran, Heymut, Zariwala, Maimoona A
Format: Artigo
Language:Inglês
Published: 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3739700/
https://ncbi.nlm.nih.gov/pubmed/22184204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/thoraxjnl-2011-200301
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