Investigation of von Willebrand Factor Gene Mutations in Korean von Willebrand Disease Patients
نویسندگان
چکیده
منابع مشابه
Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients
von Willebrand disease (VWD) is often caused by genetic defects in the vonWillebrand factor (VWF) gene and is divided into three major subtypes: type 3 (VWD3) is characterized by total absenceofVWF, type2 (VWD2)by functionaldisturbance of VWF, and type 1 (VWD1) by low plasma concentration of functionally normal VWF.1 Diagnosis of VWD is challenging due to theheterogeneity of the disease and can...
متن کاملPolymorphism 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 کاملGenetic Variations in Exon 3 of VWF Gene in Patients with Von Willebrand Disease (VWD) from South-West Iran
Abstract Background Von Willebrand disease (VWD) is an autosomally inherited bleeding disorder with the prevalence of 1% based on population studies. The disease phenotype is due to quantitative and structural/functional defects in Von Willebrand Factor (VWF) which is a glycoprotein with essential role as a carrier of FVIII in circulation and also it serves the function as hemostasis regulato...
متن کاملRAPLD COMMUNICATION Characterization of von Willebrand Factor Gene Defects in Two Unrelated Patients With Type IIC von Willebrand Disease
Genetic studies were performed in two unrelated patients with the IIC phenotype of von Willebrand disease (vWD) characterized by the increased concentration of the protomeric form of von Willebrand factor (vWF). In patient B. the sequencing of both exons 15 and 16 of the vWF gene showed two sequence alterations: a 3-bp insertion in exon 15 resulting in the insertion of a Glycine at position 625...
متن کاملCharacterization of von Willebrand factor gene defects in two unrelated patients with type IIC von Willebrand disease.
Genetic studies were performed in two unrelated patients with the IIC phenotype of von Willebrand disease (vWD) characterized by the increased concentration of the protomeric form of von Willebrand factor (vWF). In patient B, the sequencing of both exons 15 and 16 of the vWF gene showed two sequence alterations: a 3-bp insertion in exon 15 resulting in the insertion of a Glycine at position 625...
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ژورنال
عنوان ژورنال: Annals of Laboratory Medicine
سال: 2007
ISSN: 2234-3806,2234-3814
DOI: 10.3343/kjlm.2007.27.3.169