A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb

Br J Dermatol. 2008 Sep;159(3):730-2. doi: 10.1111/j.1365-2133.2008.08684.x. Epub 2008 Jun 28.
No abstract available

Publication types

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

MeSH terms

  • Asian People / genetics
  • Case-Control Studies
  • Child
  • Female
  • Gene Expression
  • Hair Follicle / metabolism
  • Humans
  • Keratin-17 / genetics*
  • Keratin-6 / genetics
  • Pachyonychia Congenita / genetics*
  • Pachyonychia Congenita / metabolism
  • Pedigree
  • Point Mutation*
  • Reverse Transcriptase Polymerase Chain Reaction / methods

Substances

  • Keratin-17
  • Keratin-6