DNAH5 Mutations Are a Common Cause of Primary Ciliary Dyskinesia with Outer Dynein Arm Defects

Rationale: Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left–right body asymmetry. To date, autosomal recessive mutations have only been identified in a small number of patients involving DNAI1 and DNAH5, which encode outer dynein arm componen...

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Main Authors: Hornef, Nada, Olbrich, Heike, Horvath, Judit, Zariwala, Maimoona A., Fliegauf, Manfred, Loges, Niki Tomas, Wildhaber, Johannes, Noone, Peadar G., Kennedy, Marcus, Antonarakis, Stylianos E., Blouin, Jean-Louis, Bartoloni, Lucia, Nüsslein, Thomas, Ahrens, Peter, Griese, Matthias, Kuhl, Heiner, Sudbrak, Ralf, Knowles, Michael R., Reinhardt, Richard, Omran, Heymut
格式: Artigo
語言:Inglês
出版: American Thoracic Society 2006
主題:
A. Airway Biology
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC2662904/
https://ncbi.nlm.nih.gov/pubmed/16627867
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1164/rccm.200601-084OC
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