LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.

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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Main Authors: Amjad Horani, Thomas W Ferkol, David Shoseyov, Mollie G Wasserman, Yifat S Oren, Batsheva Kerem, Israel Amirav, Malena Cohen-Cymberknoh, Susan K Dutcher, Steven L Brody, Orly Elpeleg, Eitan Kerem
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3602302?pdf=render

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