DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder characterized by chronic destructive airway disease and randomization of left/right body asymmetry. Males often have reduced fertility due to impaired sperm tail function. The complex PCD phenotype results from dysfunction of c...

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Main Authors: Loges, Niki Tomas, Olbrich, Heike, Fenske, Lale, Mussaffi, Huda, Horvath, Judit, Fliegauf, Manfred, Kuhl, Heiner, Baktai, Gyorgy, Peterffy, Erzsebet, Chodhari, Rahul, Chung, Eddie M.K., Rutman, Andrew, O'Callaghan, Christopher, Blau, Hannah, Tiszlavicz, Laszlo, Voelkel, Katarzyna, Witt, Michal, Ziętkiewicz, Ewa, Neesen, Juergen, Reinhardt, Richard, Mitchison, Hannah M., Omran, Heymut
Format: Artigo
Language:Inglês
Published: Elsevier 2008
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2668028/
https://ncbi.nlm.nih.gov/pubmed/18950741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.10.001
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