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Article

Diagnosis of von Willebrand disease type 2N: a simplified method for measurement of factor VIII binding to von Willebrand factor.

American journal of hematology - 1 Aug 1998

Miller C H, Kelley L, Green D

Abstract excerpt

Diagnosis of von Willebrand disease Type 2N (vWD 2N), which mimics hemophilia A and its carrier state, is important for accurate genetic counseling and appropriate therapy. To make testing for the disorder more clinically applicable, we developed a simplified method for measurement of factor VIII (FVIII) binding to von Willebrand factor (vWF) using commercially available reagents and standard clinical assays....

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Identifiers

PMID: 9692396
DOI: 10.1002/(sici)1096-8652(199808)58:4<311::aid-ajh11>3.0.co;2-a

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Diagnosis of von Willebrand disease type 2N: a simplified method for measurement of factor VIII binding to von Willebrand factor.PMID 9692396Read ↗

Measurement of von Willebrand factor-FVIII binding activity in patients with suspected von Willebrand disease type 2N: application of an ELISA-based assay in a reference laboratory.Semantic proximity Read ↗

Type 2N von Willebrand disease: Characterization and diagnostic difficulties.Semantic proximity Read ↗

Large experience with a factor VIII binding assay of plasma von Willebrand factor using commercial reagents.Semantic proximity Read ↗

Characterisation of type 2N von Willebrand disease using phenotypic and molecular techniques.Semantic proximity Read ↗

Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1.Semantic proximity Read ↗

The evaluation of factor VIII binding activity of von Willebrand factor by means of an ELISA method: significance and practical implications.Semantic proximity Read ↗

Evaluation of an automated screening assay for von Willebrand disease type 2N.Semantic proximity Read ↗

The Lesson Learned from the New c.2547-1G > T Mutation Combined with p.R854Q: When a Type 2N Mutation Reveals a Quantitative von Willebrand Factor Defect.Semantic proximity Read ↗

Clinical phenotype in genetically confirmed von Willebrand disease type 2N patients reflects a haemophilia A phenotype.Semantic proximity Read ↗

Type 2M von Willebrand disease: F606I and I662F mutations in the glycoprotein Ib binding domain selectively impair ristocetin- but not botrocetin-mediated binding of von Willebrand factor to platelets.Semantic proximity Read ↗

Recombinant expression of mutations causing von Willebrand disease type Normandy: characterization of a combined defect of factor VIII binding and multimerization.Semantic proximity Read ↗

A patient with type 2N von Willebrand disease is heterozygous for a new mutation: Gly22Glu. Demonstration of a defective expression of the second allele by the use of monoclonal antibodies.Semantic proximity Read ↗

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