Article
Type 2M vWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor.
Thrombosis and haemostasis - 1 Aug 2000
Hilbert L, Jenkins P V, Gaucher C, Meriane E, Collins P W, Pasi K J, Mazurier C
Abstract excerpt
Type 1 von Willebrand disease is characterized by a decreased plasma concentration of functionally normal von Willebrand factor (vWF) whereas type 2M is characterised by an abnormal vWF displaying decreased affinity for platelets. In these two types of patients, the multimeric structure of vWF is normal. We report here the identification, in two unrelated families from the UK and Algeria, of an in-frame 3 bp...
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