Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.

  title={Keratin 14 gene mutations in patients with epidermolysis bullosa simplex.},
  author={Haoyan Chen and Jeannette M. Bonifas and Kazuyoshi Matsumura and Shigaku Ikeda and Wendy A. Leyden and Ervin H. Epstein},
  journal={The Journal of investigative dermatology},
  volume={105 4},
Mutations in genes encoding the keratin intermediate filaments expressed in basal cells have been identified in some families with epidermolysis bullosa simplex as the proximate cause of the fragility. We have systematically scanned genomic sequences of one of these keratins, keratin 14, for mutations in patients from 49 apparently independent kindreds using single-strand conformation polymorphism analysis. The ten mutations identified are clustered at three sites--the ends of the helices and… CONTINUE READING

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