Novel and recurrent AAGAB mutations: clinical variability and molecular consequences

J Invest Dermatol. 2013 Oct;133(10):2483-2486. doi: 10.1038/jid.2013.171. Epub 2013 Apr 5.
No abstract available

Publication types

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

MeSH terms

  • Adaptor Proteins, Vesicular Transport
  • Aged
  • Carrier Proteins / genetics*
  • Female
  • Genetic Variation*
  • Humans
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology*
  • Male
  • Middle Aged
  • RNA Splice Sites / genetics*

Substances

  • AAGAB protein, human
  • Adaptor Proteins, Vesicular Transport
  • Carrier Proteins
  • RNA Splice Sites