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

Introduction Patients suffering from congenital thrombotic thrombocytopenic purpura (cTTP) have a deficiency in ADAMTS13 due to mutations in their ADAMTS13 gene. Objective The aim of this study was to determine ADAMTS13 parameters (activity, antigen, and mutations), to investigate if the propositus...

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Veröffentlicht in:	European journal of haematology 2018-08, Vol.101 (2), p.191-199
Hauptverfasser:	Schelpe, An‐Sofie, Orlando, Christelle, Ercig, Bogac, Geeroms, Chloë, Pareyn, Inge, Vandeputte, Nele, Velásquez Pereira, Leydi Carolina, Roose, Elien, Fostier, Karel, Nicolaes, Gerry A.F., Deckmyn, Hans, De Meyer, Simon F., Vanhoorelbeke, Karen, Jochmans, Kristin
Format:	Artikel
Sprache:	eng
Schlagworte:	ADAMTS13 Antigens Enzyme-linked immunosorbent assay Exons Frameshift mutation Molecular modelling Mutation Phenotypes Purpura Secretion Thrombocytopenic purpura Thrombotic thrombocytopenic purpura
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