Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.

@article{Smith1998GenomicOA,
  title={Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens.},
  author={Frances J. D. Smith and C Maingi and Seana P Covello and Craig Higgins and Michael A. Schmidt and E. Birgitte Lane and Jouni Uitto and Irene M. Leigh and W H Irwin McLean},
  journal={The Journal of investigative dermatology},
  year={1998},
  volume={111 5},
  pages={817-21}
}
We and others have previously shown that ichthyosis bullosa of Siemens, an autosomal dominant disorder characterized by epidermal thickening and blistering, is caused by mutations in the late-differentiation keratin K2e. Here, we have determined the genomic organization and complete sequence of the KRT2E gene, which consists of nine exons, spanning 7634 bp of DNA. The gene was mapped by high-resolution radiation-hybrid mapping to the interval between microsatellite markers D12S368 and CHLC… CONTINUE READING
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