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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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha: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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