Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus

Motile cilia move body fluids and gametes and the beating of cilia lining the airway epithelial surfaces ensures that they are kept clear and protected from inhaled pathogens and consequent respiratory infections. Dynein motor proteins provide mechanical force for cilia beating. Dynein mutations are...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Fassad, Mahmoud R., Shoemark, Amelia, Legendre, Marie, Hirst, Robert A., Koll, France, le Borgne, Pierrick, Louis, Bruno, Daudvohra, Farheen, Patel, Mitali P., Thomas, Lucie, Dixon, Mellisa, Burgoyne, Thomas, Hayes, Joseph, Nicholson, Andrew G., Cullup, Thomas, Jenkins, Lucy, Carr, Siobhán B., Aurora, Paul, Lemullois, Michel, Aubusson-Fleury, Anne, Papon, Jean-François, O’Callaghan, Christopher, Amselem, Serge, Hogg, Claire, Escudier, Estelle, Tassin, Anne-Marie, Mitchison, Hannah M.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6288320/
https://ncbi.nlm.nih.gov/pubmed/30471717
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.10.016
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