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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Public Library of Science 2013
विषय:
Research Article
ऑनलाइन पहुंच: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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