C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomized left-right body asymmetry. PCD is mostly caused by mutations affecting the core axoneme structure of motile cili...

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Publicat a:Am J Hum Genet
Autors principals: Fassad, Mahmoud R., Shoemark, Amelia, le Borgne, Pierrick, Koll, France, Patel, Mitali, Dixon, Mellisa, Hayward, Jane, Richardson, Charlotte, Frost, Emily, Jenkins, Lucy, Cullup, Thomas, Chung, Eddie M.K., Lemullois, Michel, Aubusson-Fleury, Anne, Hogg, Claire, Mitchell, David R., Tassin, Anne-Marie, Mitchison, Hannah M.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5986720/
https://ncbi.nlm.nih.gov/pubmed/29727692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.03.024
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