Rsal polymorphism in von Willebrand factor (vWF) at codon 789
نویسندگان
چکیده
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 کاملAssay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival.
Type 1 von Willebrand disease (VWD) is characterized by a partial quantitative deficiency of von Willebrand factor (VWF). Few VWF gene mutations have been identified that cause dominant type 1 VWD. The decreased survival of VWF in plasma has recently been identified as a novel mechanism for type 1 VWD. We report 4 families with moderately severe type 1 VWD characterized by low plasma VWF:Ag and...
متن کاملHEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Assay of the von Willebrand factor (VWF) propeptide to identify patients with type 1 von Willebrand disease with decreased VWF survival
Type 1 von Willebrand disease (VWD) is characterized by a partial quantitative deficiency of von Willebrand factor (VWF). Few VWF gene mutations have been identified that cause dominant type 1 VWD. The decreased survival of VWF in plasma has recently been identified as a novel mechanism for type 1 VWD. We report 4 families with moderately severe type 1 VWD characterized by low plasma VWF:Ag and...
متن کاملPredictors of Bleeding from Esophageal Varices: The Role of Factor VII and von Willebrand Factor (vWF)
Objectives: Bleeding from gastroesophageal varices is the most serious and life-threatening complication of cirrhosis and accounts for 10% of all cases of bleeding from the upper GI tract. It is essential to identify and treat those patients at the highest risk because each episode of variceal hemorrhage carries a 20 percent to 30 percent risk of death, and up to 70 percent of patients who do n...
متن کاملThe role of the D1 domain of the von Willebrand factor propeptide in multimerization of VWF.
While studying patient plasma containing an unusual pattern of von Willebrand factor (VWF) multimers, we discovered a previously unreported phenomenon: heavy predominance of dimeric VWF. Genomic analysis revealed a new congenital mutation (Tyr87Ser) that altered the final stages of VWF biosynthesis. This mutation in the propeptide (VWFpp) resulted in synthesis of dimeric VWF with an almost comp...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Nucleic Acids Research
سال: 1990
ISSN: 0305-1048,1362-4962
DOI: 10.1093/nar/18.16.4961-a