Whole Genome Linkage Analysis Followed by Whole Exome Sequencing Identifies Nicastrin (NCSTN) as a Causative Gene in a Multiplex Family with γ-Secretase Spectrum of Autoinflammatory Skin Phenotypes

J Invest Dermatol. 2016 Jun;136(6):1283-1286. doi: 10.1016/j.jid.2016.02.801. Epub 2016 Mar 9.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amyloid Precursor Protein Secretases / genetics*
  • Exome Sequencing*
  • Female
  • Genetic Linkage*
  • Hidradenitis Suppurativa / genetics*
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Phenotype

Substances

  • Membrane Glycoproteins
  • nicastrin protein
  • Amyloid Precursor Protein Secretases

Supplementary concepts

  • Hidradenitis suppurativa, familial