Molecular genetics of von Willebrand disease
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چکیده
منابع مشابه
Molecular genetics of von Willebrand disease.
Von Willebrand disease (vWD), the most common congenital bleeding disorder in man, is related to quantitative and/or qualitative abnormalities of von Willebrand factor (vWF). This multimeric glycoprotein serves as carrier protein of factor VIII, an essential cofactor of coagulation in plasma, and promotes platelet adhesion to the damaged vessel and platelet aggregation. Distinct abnormalities o...
متن کاملMolecular Genetics of von Willebrand Disease
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متن کاملThe Molecular Genetics of von Willebrand Disease
UNLABELLED Quantitative and/or qualitative deficiency of von Willebrand factor (vWF) is associated with the most common inherited bleeding disease von Willebrand disease (vWD). vWD is a complex disease with clinical and genetic heterogeneity. Incomplete penetrance and variable expression due to genetic and environmental factors contribute to its complexity. vWD also has a complex molecular path...
متن کاملThe molecular biology of von Willebrand disease.
von Willebrand disease is the most common inherited bleeding disorder in humans, with the general population prevalence estimated to be as high as 1% in some studies. This condition exhibits extensive heterogeneity with over 20 distinct subtypes distinguished based on subtle clinical and laboratory differences in presentation. Recent research laboratory advances have shed considerable new light...
متن کاملMolecular genetic analysis of porcine von Willebrand disease: tight linkage to the von Willebrand factor locus.
von Willebrand disease (vWD), one of the most common bleeding disorders in humans, is manifested as a quantitative or qualitative defect in von Willebrand factor (vWF), an adhesive glycoprotein (GP) with critical hemostatic functions. Except for the rare severely affected patient with a gene deletion as etiology of the disease, the molecular basis for vWD is not known. We studied the molecular ...
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ژورنال
عنوان ژورنال: Blood
سال: 1992
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v79.10.2507.bloodjournal79102507