A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens

Br J Dermatol. 2007 May;156(5):1042-4. doi: 10.1111/j.1365-2133.2007.07832.x. Epub 2007 Apr 4.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aged
  • Asian People / genetics
  • Child
  • DNA Mutational Analysis
  • Female
  • Humans
  • Ichthyosis Bullosa of Siemens / genetics*
  • Ichthyosis Bullosa of Siemens / pathology
  • Japan
  • Keratin-2 / genetics*
  • Male
  • Pedigree

Substances

  • Keratin-2