The somatic GNAQ mutation (R183Q) is primarily located within the blood vessels of port wine stains

J Am Acad Dermatol. 2016 Feb;74(2):380-3. doi: 10.1016/j.jaad.2015.09.063.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Blood Vessels / chemistry*
  • Connective Tissue / chemistry
  • DNA Mutational Analysis
  • GTP-Binding Protein alpha Subunits / analysis
  • GTP-Binding Protein alpha Subunits / genetics*
  • GTP-Binding Protein alpha Subunits, Gq-G11
  • Hair Follicle / chemistry
  • Humans
  • Infant, Newborn
  • Laser Capture Microdissection
  • Middle Aged
  • Mutation*
  • Port-Wine Stain / genetics*

Substances

  • GNAQ protein, human
  • GTP-Binding Protein alpha Subunits
  • GTP-Binding Protein alpha Subunits, Gq-G11