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Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease

✍ Scribed by Christine Gaucher; Michel Hanss; Marc Dechavanne; Claudine Mazurier


Book ID
114713324
Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
606 KB
Volume
83
Category
Article
ISSN
0007-1048

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Type 2A is a qualitative variant of von Willebrand disease (vWD) characterized by a reduced platelet-dependent function, associated with an absence of large multimers. A G5135A transition, resulting in a glycine to arginine substitution at the codon 1629 of the von Willebrand factor, was identified

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## Abstract Most of type 2A von Willebrand disease (VWD) mutations are clustered within the A2 domain of VWF, encoded by the 3β€² region of exon 28 of the von Willebrand factor (VWF) gene. A patient with lifelong and severe bleeding diathesis and laboratory data of type 2A VWD is described. The analy