Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients

J Invest Dermatol. 2013 Nov;133(11):2631-2634. doi: 10.1038/jid.2013.198. Epub 2013 Apr 30.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Vesicular Transport
  • Asian People / genetics*
  • Carrier Proteins / genetics*
  • Female
  • Humans
  • Incidence
  • Keratoderma, Palmoplantar / ethnology
  • Keratoderma, Palmoplantar / genetics*
  • Male
  • Mutation / genetics
  • Pedigree

Substances

  • AAGAB protein, human
  • Adaptor Proteins, Vesicular Transport
  • Carrier Proteins