The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia

@article{Pennarun2000TheHD,
  title={The human dynein intermediate chain 2 gene (DNAI2): cloning, mapping, expression pattern, and evaluation as a candidate for primary ciliary dyskinesia},
  author={Ga{\"e}lle Pennarun and Catherine Chapelin and Estelle Escudier and A Bridoux and Florence Dastot and Val{\`e}re Cacheux and Michel Goossens and Serge Amselem and B{\'e}n{\'e}dicte Duriez},
  journal={Human Genetics},
  year={2000},
  volume={107},
  pages={642-649}
}
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease characterized by chronic sinusitis and bronchiectasis, and usually associated with hypofertility. Half of the patients present a situs inversus, defining the Kartagener’s syndrome. This phenotype results from axonemal abnormalities of respiratory cilia and sperm flagella, i.e., mainly an absence of dynein arms. Recently, a candidate-gene approach, based on documented abnormalities of immotile strains of Chlamydomonas reinhardtii… CONTINUE READING

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Mouse dynein axonemal intermediate chain 2: cloning and expression.

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