A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent

J Dermatol Sci. 2015 Oct;80(1):76-8. doi: 10.1016/j.jdermsci.2015.07.013. Epub 2015 Jul 26.
No abstract available

Keywords: Diffuse palmoplantar keratoderma; Mal de Meleda; Mutation; SLURP1.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Antigens, Ly / genetics*
  • Child
  • Female
  • HEK293 Cells
  • Humans
  • India
  • Keratoderma, Palmoplantar / genetics*
  • Male
  • Mutation
  • RNA Splice Sites
  • Urokinase-Type Plasminogen Activator / genetics*

Substances

  • Antigens, Ly
  • RNA Splice Sites
  • SLURP1 protein, human
  • Urokinase-Type Plasminogen Activator