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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm.

  • Author(s): Moore, Anthony
  • Onoufriadis, A
  • Shoemark, A
  • Munye, MM
  • James, CT
  • Schmidts, M
  • Patel, M
  • Rosser, EM
  • Bacchelli, C
  • Beales, PL
  • Scambler, PJ
  • et al.

Published Web Location

http://europepmc.org/articles/PMC3888613?pdf=render
No data is associated with this publication.
Abstract

Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms and

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