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Article

Type 2A (IIH) von Willebrand disease is due to mutations that affect von Willebrand factor multimerization.

Journal of thrombosis and haemostasis : JTH - 1 Jul 2009

Baronciani L, Federici A B, Punzo M, Solimando M, Cozzi G, La Marca S, Rubini V, Canciani M T, Mannucci P M

Abstract excerpt

BACKGROUND: Type IIH von Willebrand disease was reported 20 years ago as a novel variant characterized by the loss of the largest multimers in plasma and platelets and absence of the typical triplet structure. OBJECTIVES AND METHODS: The propositus and his daughter have been reinvestigated and characterized at the molecular level. The identified mutations were expressed in COS-7 cells to evaluate the mechanism of...

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PMID: 19422453
DOI: 10.1111/j.1538-7836.2009.03457.x

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VWF

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