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TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

Cilia and flagella are evolutionarily conserved organelles whose motility relies on the outer and inner dynein arm complexes (ODAs and IDAs). Defects in ODAs and IDAs result in primary ciliary dyskinesia (PCD), a disease characterized by recurrent airway infections and male infertility. PCD mutation...

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書目詳細資料
發表在:Am J Hum Genet
Main Authors: Thomas, Lucie, Bouhouche, Khaled, Whitfield, Marjorie, Thouvenin, Guillaume, Coste, Andre, Louis, Bruno, Szymanski, Claire, Bequignon, Emilie, Papon, Jean-François, Castelli, Manon, Lemullois, Michel, Dhalluin, Xavier, Drouin-Garraud, Valérie, Montantin, Guy, Tissier, Sylvie, Duquesnoy, Philippe, Copin, Bruno, Dastot, Florence, Couvet, Sandrine, Barbotin, Anne-Laure, Faucon, Catherine, Honore, Isabelle, Maitre, Bernard, Beydon, Nicole, Tamalet, Aline, Rives, Nathalie, Koll, France, Escudier, Estelle, Tassin, Anne-Marie, Touré, Aminata, Mitchell, Valérie, Amselem, Serge, Legendre, Marie
格式: Artigo
語言:Inglês
出版: Elsevier 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC7011118/
https://ncbi.nlm.nih.gov/pubmed/31978331
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.12.010
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