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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang: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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