Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type

J Invest Dermatol. 2014 Jan;134(1):284-287. doi: 10.1038/jid.2013.302. Epub 2013 Jul 18.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Aquaporin 5 / genetics*
  • Asian People / genetics*
  • Family Health
  • Female
  • Humans
  • Keratoderma, Palmoplantar, Diffuse / genetics*
  • Male
  • Pedigree

Substances

  • AQP5 protein, human
  • Aquaporin 5

Supplementary concepts

  • Diffuse palmoplantar keratoderma, Bothnian type