Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia

Motile cilia are essential components of the mucociliary escalator and are central to respiratory-tract host defenses. Abnormalities in these evolutionarily conserved organelles cause primary ciliary dyskinesia (PCD). Despite recent strides characterizing the ciliome and sensory ciliopathies through...

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Main Authors: Horani, Amjad, Druley, Todd E., Zariwala, Maimoona A., Patel, Anand C., Levinson, Benjamin T., Van Arendonk, Laura G., Thornton, Katherine C., Giacalone, Joe C., Albee, Alison J., Wilson, Kate S., Turner, Emily H., Nickerson, Deborah A., Shendure, Jay, Bayly, Philip V., Leigh, Margaret W., Knowles, Michael R., Brody, Steven L., Dutcher, Susan K., Ferkol, Thomas W.
格式: Artigo
語言:Inglês
出版: Elsevier 2012
主題:
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3484505/
https://ncbi.nlm.nih.gov/pubmed/23040496
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.08.022
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