Dominant negative SERPING1 variants cause intracellular retention of C1-inhibitor in hereditary angioedema

Didde Haslund, Laura Barrett Ryø, Sara Seidelin Majidi, Iben Rose Christiansen, Kristian Alsbjerg Skipper, Tue Fryland, Anja Bille Bohn, Claus Koch, Martin Kristian Thomsen, Yaseelan Palarasah, Thomas Juhl Corydon, Anette Bygum, Lene Niemann Nejsum, Jacob Giehm Mikkelsen

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

2 Citations (Scopus)
Original languageEnglish
Article numberCI98869
JournalJournal of Clinical Investigation
Volume129
Issue1
Pages (from-to)388-405
Number of pages18
ISSN0021-9738
DOIs
Publication statusPublished - 2019

Keywords

  • ALPHA(1)-ANTITRYPSIN
  • ANGIONEUROTIC EDEMA
  • GENE
  • MECHANISM
  • MUTANTS
  • MUTATION
  • NEUROSERPIN
  • POLYMERIZATION
  • PROTEINS
  • SUPERFAMILY

Cite this