Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.

@article{Stephens1997PrimersFE,
  title={Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.},
  author={Kathryn M. Stephens and Paul Said Ehrlich and M. B. Weaver and Rosalynda Le and Andrew Spencer and Virginia P. Sybert},
  journal={The Journal of investigative dermatology},
  year={1997},
  volume={108 3},
  pages={349-53}
}
The KRT5 and KRT14 genes encode the proteins keratin 5 and 14, respectively, which are the primary structural components of the 10-nm intermediate filaments of the mitotic epidermal basal cells. A single mutation in either gene can disrupt the keratin intermediate filament cytoskeleton, resulting in the skin fragility and blistering that is characteristic of the group of inherited disorders known as epidermolysis bullosa simplex. We have established a mutation detection system that facilitates… CONTINUE READING

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