Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.

@article{Rothnagel1992MutationsIT,
  title={Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.},
  author={Joseph A. Rothnagel and A M Dominey and L D Dempsey and Mary Ann Longley and David A. Greenhalgh and T A Gagne and Marcel Huber and Edgar Frenk and D. Hohl and Dennis R. Roop},
  journal={Science},
  year={1992},
  volume={257 5073},
  pages={1128-30}
}
Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. In one family, affected individuals exhibited a mutation in the highly conserved carboxyl terminal of the rod domain of keratin 1. In two other families, affected individuals had mutations in the highly conserved amino terminal of the rod domain of keratin 10. Structural analysis of these mutations predicts that heterodimer formation would be unaffected… CONTINUE READING
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