Three novel mutations in GPNMB in two pedigrees with amyloidosis cutis dyschromica

Br J Dermatol. 2019 Dec;181(6):1327-1329. doi: 10.1111/bjd.18260. Epub 2019 Sep 1.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Amyloidosis, Familial / diagnosis
  • Amyloidosis, Familial / genetics*
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Exons / genetics
  • Female
  • Frameshift Mutation
  • Heterozygote
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Pedigree
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / genetics*
  • Whole Exome Sequencing

Substances

  • Codon, Nonsense
  • GPNMB protein, human
  • Membrane Glycoproteins

Supplementary concepts

  • Amyloidosis, Primary Cutaneous