Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

A novel variant Glanzmann thrombasthenia due to co-inheritance of a loss- and a gain-of-function mutation of ITGB3: evidence of a dominant effect of gain-of-function mutations

Research output: Contribution to journalJournal articleResearchpeer-review

  1. Blodsygdomme

    Research output: Chapter in Book/Report/Conference proceedingBook chapterCommunication

  2. Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Blodsygdomme

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  4. Germline heterozygous variants in genes associated with familial hemophagocytic lymphohistiocytosis as a cause of increased bleeding

    Research output: Contribution to journalJournal articleResearchpeer-review

  • Loredana Bury
  • Eva Zetterberg
  • Eva B Leinøe
  • Emanuela Falcinelli
  • Alessandro Marturano
  • Giorgia Manni
  • Alan T Nurden
  • Paolo Gresele
View graph of relations
Original languageEnglish
JournalHaematologica
Volume103
Issue number6
Pages (from-to)e259-e263
ISSN0390-6078
DOIs
Publication statusPublished - Jun 2018

ID: 56546066