Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach

J Dermatol Sci. 2010 Jan;57(1):69-70. doi: 10.1016/j.jdermsci.2009.09.006. Epub 2009 Oct 24.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Base Sequence
  • Collagen Type IV / chemistry
  • DNA Primers / chemistry
  • DNA Primers / genetics
  • Epidermolysis Bullosa Simplex / genetics*
  • Exons
  • Humans
  • Integrin beta4 / biosynthesis
  • Introns
  • Keratin-14 / genetics*
  • Microscopy, Fluorescence / methods
  • Molecular Sequence Data
  • Mutation*
  • Pseudogenes
  • Skin / pathology

Substances

  • Collagen Type IV
  • DNA Primers
  • Integrin beta4
  • Keratin-14