Atypical splice-site mutations causing VEXAS syndrome

Rheumatology (Oxford). 2021 Dec 1;60(12):e435-e437. doi: 10.1093/rheumatology/keab524.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Aged
  • DNA / genetics*
  • DNA Mutational Analysis
  • Hereditary Autoinflammatory Diseases / diagnosis
  • Hereditary Autoinflammatory Diseases / genetics*
  • Hereditary Autoinflammatory Diseases / metabolism
  • Humans
  • Male
  • Mutation*
  • Ubiquitin-Activating Enzymes / genetics*
  • Ubiquitin-Activating Enzymes / metabolism

Substances

  • UBA1 protein, human
  • DNA
  • Ubiquitin-Activating Enzymes