von Willebrand disease type1/type 2N compound heterozygotes: diagnostic and management challenges
Author:
Affiliation:
1. Division of Hematology; Mayo Clinic; Rochester MN USA
2. Special Coagulation Laboratory; Division of Hematopathology; Mayo Clinic; Rochester MN USA
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.14028/fullpdf
Reference10 articles.
1. Type 2N von Willebrand disease: rapid genetic diagnosis of G2811A (R854Q), C2696T (R816W), T2701A (H817Q) and G2823T (C858F) - detection of a novel candidate type 2N mutation: C2810T (R854W);Bowen;Thrombosis and Haemostasis,1998
2. Type 2N von Willebrand disease due to Arg91Gln substitution and a cytosine deletion in exon 18 of the von Willebrand factor gene;Casonato;British Journal of Haematology,1998
3. Interaction of factor VIII and von Willebrand factor and the identification of type 2N von Willebrand disease;Favaloro;Thrombosis Research,2011
4. Identification and prevalence of von Willebrand disease type 2N (Normandy) in Australia;Favaloro;Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis,2009
5. The molecular characterization of von Willebrand disease: good in parts;James;British Journal of Haematology,2013
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