منابع مشابه
Polymorphism in the promoter region of von Willebrand factor gene and von Willebrand disease type 1
The -1185A/G polymorphism in the 5’-regulatory region of the von Willebrand factor (VWF) gene was associated with VWF plasma levels in a normal population. This study was undertaken to evaluate whether there is a relationship between this polymorphism and type 1 von Willebrand disease (VWD), a disorder characterized by a quantitative deficiency of VWF. The association between this polymorphism ...
متن کاملFounder von Willebrand factor haplotype associated with type 1 von Willebrand disease.
To date, no dominant mutation has been identified in a significant proportion of patients with type 1 von Willebrand disease (VWD). In this study, we examined 70 families as part of the Canadian Type 1 VWD Study. The entire VWF gene was sequenced for 1 index case, revealing 2 sequence variations: intron 30 (5312-19A>C) and exon 28 at Tyr1584Cys (4751A>G). The Tyr1584Cys variation was identified...
متن کاملThrombocytopathy and type 2B von Willebrand disease.
The knowledge gained from "experiments of nature" has always been paramount in identifying key players in pathophysiologic pathways. This is well characterized by naturally occurring bleeding and thrombotic disorders. In most cases, it is the absence of a particular protein that leads to recognition of its importance for normal physiology. On the other hand, gain-of-function mutations highlight...
متن کاملNew variant of von Willebrand disease type II with markedly increased levels of von Willebrand factor antigen and dominant mode of inheritance: von Willebrand disease type IIC Miami.
A variant of von Willebrand disease (vWD) was identified in six members of a kindred spanning four generations. The proband was a 46-year-old woman with a lifelong history of bleeding, a prolonged bleeding time (> 15 minutes), markedly elevated von Willebrand factor (vWF) antigen (vWF:Ag = 2.09 U/mL), slightly reduced ristocetin cofactor activity, and a plasma vWF multimer pattern similar to th...
متن کاملReduced von Willebrand factor survival in type Vicenza von Willebrand disease.
Type Vicenza variant of von Willebrand disease (VWD) is characterized by a low plasma von Willebrand factor (VWF) level and supranormal VWF multimers. Two candidate mutations, G2470A and G3864A at exons 17 and 27, respectively, of the VWF gene were recently reported to be present in this disorder. Four additional families, originating from northeast Italy, with both mutations of type Vicenza VW...
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ژورنال
عنوان ژورنال: Journal of Thrombosis and Haemostasis
سال: 2007
ISSN: 1538-7933,1538-7836
DOI: 10.1111/j.1538-7836.2007.02488.x