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
β 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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π SIMILAR VOLUMES
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
## Abstract Most of type 2A von Willebrand disease (VWD) mutations are clustered within the A2 domain of VWF, encoded by the 3β² 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