Identification and Characterization of a Recessive Missense Mutation p.P277L in SERPINB7 in Nagashima-Type Palmoplantar Keratosis

J Invest Dermatol. 2016 Jan;136(1):325-8. doi: 10.1038/JID.2015.347.
No abstract available

Publication types

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

MeSH terms

  • Female
  • Genetic Predisposition to Disease / epidemiology*
  • Genotype
  • Humans
  • Immunohistochemistry
  • Incidence
  • Inheritance Patterns / genetics
  • Japan / epidemiology
  • Keratoderma, Palmoplantar / ethnology*
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Male
  • Mass Screening
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Serpins / genetics*

Substances

  • SERPINB7 protein, human
  • Serpins