DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

@article{Hornef2006DNAH5MA,
  title={DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.},
  author={Nada Hornef and Heike Olbrich and Judit Horv{\'a}th and Maimoona A Zariwala and Manfred Fliegauf and Niki Tomas Loges and Johannes H Wildhaber and Peadar G Noone and Marcus Kennedy and Stylianos E. Antonarakis and J. L. Blouin and Lucia Bartoloni and Thomas G. Nuesslein and Peter Ahrens and Matthias Griese and Heiner Kuhl and Ralf Sudbrak and Michael R Knowles and Richard Reinhardt and Heymut Omran},
  journal={American journal of respiratory and critical care medicine},
  year={2006},
  volume={174 2},
  pages={120-6}
}
RATIONALE Primary ciliary dyskinesia (PCD) is characterized by recurrent airway infections and randomization of left-right body asymmetry. To date, autosomal recessive mutations have only been identified in a small number of patients involving DNAI1 and DNAH5, which encode outer dynein arm components. METHODS We screened 109 white PCD families originating from Europe and North America for presence of DNAH5 mutations by haplotype analyses and/or sequencing. RESULTS Haplotype analyses… CONTINUE READING
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