A new candidate mutation, G1629R, in a patient with type 2A von Willebrand's disease: basic mechanisms and clinical implications.

Background And Objectives: Type 2A von Willebrand's disease (VWD) refers to disease variants with decreased platelet-dependent function of von Willebrand factor (VWF) associated with the absence of high molecular weight (HMW) multimers. The candidate G1629R mutation, identified in an Italian patient with type 2A VWD, was expressed to confirm the relationship between phenotype and genotype.

Design And Methods: Plasma samples from the patient were studied after DDAVP or FVIII/VWF concentrate injections.