LRRC6 Mutation Causes Primary Ciliary Dyskinesia with Dynein Arm Defects

Despite recent progress in defining the ciliome, the genetic basis for many cases of primary ciliary dyskinesia (PCD) remains elusive. We evaluated five children from two unrelated, consanguineous Palestinian families who had PCD with typical clinical features, reduced nasal nitric oxide concentrati...

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Hauptverfasser: Horani, Amjad, Ferkol, Thomas W., Shoseyov, David, Wasserman, Mollie G., Oren, Yifat S., Kerem, Batsheva, Amirav, Israel, Cohen-Cymberknoh, Malena, Dutcher, Susan K., Brody, Steven L., Elpeleg, Orly, Kerem, Eitan
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2013
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3602302/
https://ncbi.nlm.nih.gov/pubmed/23527195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0059436
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