LC-MS/MS and immuno-electron subtyping combined with genetics show that OSMR mutations cause amyloid deposition of keratins 5/14 in familial primary localized cutaneous amyloidosis

J Eur Acad Dermatol Venereol. 2022 Jan;36(1):e66-e68. doi: 10.1111/jdv.17630. Epub 2021 Sep 17.
No abstract available

Publication types

  • Letter

MeSH terms

  • Amyloidosis, Familial* / genetics
  • Chromatography, Liquid
  • Humans
  • Keratins
  • Mutation
  • Oncostatin M Receptor beta Subunit / genetics
  • Skin Diseases* / genetics
  • Skin Diseases, Genetic
  • Tandem Mass Spectrometry

Substances

  • OSMR protein, human
  • Oncostatin M Receptor beta Subunit
  • Keratins

Supplementary concepts

  • Amyloidosis, Primary Cutaneous