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ARMC4 Mutations Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry

The motive forces for ciliary movement are generated by large multiprotein complexes referred to as outer dynein arms (ODAs), which are preassembled in the cytoplasm prior to transport to the ciliary axonemal compartment. In humans, defects in structural components, docking complexes, or cytoplasmic...

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Detalhes bibliográficos
Main Authors: Hjeij, Rim, Lindstrand, Anna, Francis, Richard, Zariwala, Maimoona A., Liu, Xiaoqin, Li, You, Damerla, Rama, Dougherty, Gerard W., Abouhamed, Marouan, Olbrich, Heike, Loges, Niki T., Pennekamp, Petra, Davis, Erica E., Carvalho, Claudia M.B., Pehlivan, Davut, Werner, Claudius, Raidt, Johanna, Köhler, Gabriele, Häffner, Karsten, Reyes-Mugica, Miguel, Lupski, James R., Leigh, Margaret W., Rosenfeld, Margaret, Morgan, Lucy C., Knowles, Michael R., Lo, Cecilia W., Katsanis, Nicholas, Omran, Heymut
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3738828/
https://ncbi.nlm.nih.gov/pubmed/23849778
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.06.009
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