Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous recessive disorder caused by several distinct defects in genes responsible for ciliary beating, leading to defective mucociliary clearance often associated with randomization of left/right body asymmetry. Individuals with PCD caused by...

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Vydáno v:Am J Respir Cell Mol Biol
Hlavní autoři: Frommer, Adrien, Hjeij, Rim, Loges, Niki T., Edelbusch, Christine, Jahnke, Charlotte, Raidt, Johanna, Werner, Claudius, Wallmeier, Julia, Große-Onnebrink, Jörg, Olbrich, Heike, Cindrić, Sandra, Jaspers, Martine, Boon, Mieke, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Marthin, June K., Nielsen, Kim G., Amirav, Israel, Elias, Nael, Kerem, Eitan, Shoseyov, David, Haeffner, Karsten, Omran, Heymut
Médium: Artigo
Jazyk:Inglês
Vydáno: American Thoracic Society 2015
Témata:
Original Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5306451/
https://ncbi.nlm.nih.gov/pubmed/25789548
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1165/rcmb.2014-0483OC
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