Exome sequencing identifies FATP1 mutation in Melkersson-Rosenthal syndrome

J Eur Acad Dermatol Venereol. 2017 May;31(5):e230-e232. doi: 10.1111/jdv.14042. Epub 2016 Dec 2.
No abstract available

Publication types

  • Letter

MeSH terms

  • Biopsy
  • DNA / genetics*
  • DNA Mutational Analysis
  • Exome
  • Fatty Acid Transport Proteins / genetics*
  • Fatty Acid Transport Proteins / metabolism
  • Female
  • Humans
  • Male
  • Melkersson-Rosenthal Syndrome / diagnosis
  • Melkersson-Rosenthal Syndrome / genetics*
  • Mutation*
  • Pedigree
  • Whole Exome Sequencing / methods*

Substances

  • Fatty Acid Transport Proteins
  • SLC27A1 protein, human
  • DNA