A novel nonsense mutation in Kindler syndrome

J Invest Dermatol. 2004 Jan;122(1):84-6. doi: 10.1046/j.0022-202X.2003.22138.x.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Codon, Nonsense*
  • Extracellular Matrix Proteins / genetics*
  • Humans
  • Male
  • Membrane Proteins
  • Neoplasm Proteins
  • Photosensitivity Disorders / genetics*
  • Rothmund-Thomson Syndrome / genetics*

Substances

  • Codon, Nonsense
  • Extracellular Matrix Proteins
  • FERMT1 protein, human
  • Membrane Proteins
  • Neoplasm Proteins