Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.

@article{Zariwala2001GermlineMI,
  title={Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.},
  author={Maimoona A Zariwala and Peadar G Noone and Aruna Sannuti and Susan L Minnix and Zhiyong Zhou and Margaret W. Leigh and Milan Hazucha and Johnny L. Carson and Michael R Knowles},
  journal={American journal of respiratory cell and molecular biology},
  year={2001},
  volume={25 5},
  pages={577-83}
}
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous, autosomal recessive disorder caused by abnormal ciliary ultrastructure and function, characterized clinically by oto-sino-pulmonary disease. Mutations in an intermediate chain dynein (DNAI1; IC78) have recently been described in PCD patients, with outer dynein arm (ODA) defects. The aims of the current study were to test for novel DNAI1 mutations in 13 PCD patients with ODA defects (from 7 unrelated families) and to assess… CONTINUE READING
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