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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2011
Pynciau:
Article
Mynediad Ar-lein: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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