Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

@article{Guichard2001AxonemalDI,
  title={Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).},
  author={C{\'e}cile Guichard and M. C. Harricane and J. J. Lafitte and Patrice Godard and Melissa A Zaegel and Vanessa Tack and Guy Lalau and Patrice Bouvagnet},
  journal={American journal of human genetics},
  year={2001},
  volume={68 4},
  pages={1030-5}
}
Kartagener syndrome (KS) is a trilogy of symptoms (nasal polyps, bronchiectasis, and situs inversus totalis) that is associated with ultrastructural anomalies of cilia of epithelial cells covering the upper and lower respiratory tracts and spermatozoa flagellae. The axonemal dynein intermediate-chain gene 1 (DNAI1), which has been demonstrated to be responsible for a case of primary ciliary dyskinesia (PCD) without situs inversus, was screened for mutation in a series of 34 patients with KS. We… CONTINUE READING

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