Child-onset thrombotic thrombocytopenic purpura caused by p.R498C and p.G259PfsX133 mutations in ADAMTS13

An-Sofie Schelpe, Christelle Orlando, Bogac Ercig, Chloe Geeroms, Inge Pareyn, Nele Vandeputte, Leydi Carolina Pereira, Elien Roose, Karel Fostier, Gerry A. F. Nicolaes, Hans Deckmyn, Simon F. De Meyer, Karen Vanhoorelbeke, Kristin Jochmans

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)191-199
Number of pages9
JournalEuropean Journal of Haematology
Volume101
Issue number2
DOIs
Publication statusPublished - 1 Aug 2018

Keywords

  • ADAMTS13
  • mutation
  • thrombotic thrombocytopenic purpura
  • VON-WILLEBRAND-FACTOR
  • FACTOR-CLEAVING PROTEASE
  • UPSHAW-SCHULMAN-SYNDROME
  • MISSENSE MUTATION
  • GENE
  • DEFICIENCY
  • PLASMA
  • MICROANGIOPATHIES
  • POLYMORPHISMS
  • PREVALENCE

Cite this

Schelpe, A-S., Orlando, C., Ercig, B., Geeroms, C., Pareyn, I., Vandeputte, N., Pereira, L. C., Roose, E., Fostier, K., Nicolaes, G. A. F., Deckmyn, H., De Meyer, S. F., Vanhoorelbeke, K., & Jochmans, K. (2018). Child-onset thrombotic thrombocytopenic purpura caused by p.R498C and p.G259PfsX133 mutations in ADAMTS13. European Journal of Haematology, 101(2), 191-199. https://doi.org/10.1111/ejh.13094