A novel 5-bp deletion mutation in AAGAB gene in a Chinese family with punctate palmoplantar keratoderma

Acta Derm Venereol. 2014 May;94(3):339-40. doi: 10.2340/00015555-1724.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Vesicular Transport / genetics*
  • Asian People / genetics*
  • China
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Humans
  • Keratoderma, Palmoplantar / ethnology
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Male
  • Middle Aged
  • Phenotype
  • Risk Factors
  • Sequence Deletion*
  • Skin / pathology

Substances

  • AAGAB protein, human
  • Adaptor Proteins, Vesicular Transport

Supplementary concepts

  • Keratosis palmoplantaris papulosa