Two new candidate mutations in type IIA von Willebrand's disease (ARG834→GLY, GLY846→ARG) and one polymorphism (TYR821→CYS) in the A2 region of the von Willebrand factor
Author:
Publisher
Wiley
Subject
Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.1993.tb00602.x/fullpdf
Reference33 articles.
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3. Cloning and characterization of two cDNAs coding for human von Willebrand factor;Sadler;Proc Natl Acad Sci,1985
4. Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization;Ginsburg;Science,1985
5. Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene;Verweij;Nucl Acid Res,1985
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1. VON WILLEBRAND DISEASE: CLINICAL, COAGULOGICAL, MOLECULAR AND GENETIC DATA COMPARISON;Russian journal of hematology and transfusiology;2019-11-09
2. Case report of two siblings with type 2A von Willebrand disease involving a novel mutation within the calcium-binding site of the A2 domain of von Willebrand factor;Blood Coagulation & Fibrinolysis;2019-06
3. Extensive contacts between ADAMTS13 exosites and von Willebrand factor domain A2 contribute to substrate specificity;Blood;2008-09-01
4. Genetics of type 1 von Willebrand disease;Current Opinion in Hematology;2007-09
5. Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype;Journal of Thrombosis and Haemostasis;2005-12
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