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Article

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

Thrombosis and haemostasis - 1 Oct 1996

Schneppenheim R, Budde U, Krey S, Drewke E, Bergmann F, Lechler E, Oldenburg J, Schwaab R

Abstract excerpt

A screening program for the detection of patients with von Willebrand disease type 2N (VWD 2N) was carried out in 177 unrelated patients previously diagnosed with haemophilia A and in 199 unrelated patients with VWD type 1 in comparison. By measuring the factor VIII (FVIII) binding capacity of vo...

Topics

Adult
Child
Evaluation Studies as Topic
Female
Genes, Recessive
Haplotypes
Hemophilia A
Hemostasis
Humans
Male
Mass Screening
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

von Willebrand Diseases

Source

Identifiers

PMID: 8903002

Genes

VWF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8903002-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Results of a screening for von Willebrand disease type 2N in patients with suspected haemophilia A or von Willebrand disease type 1.PMID 8903002Read ↗

Type 2N von Willebrand disease.Semantic proximity Read ↗

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

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

Characterisation of mutations and molecular studies of type 2 von Willebrand disease.Semantic proximity Read ↗

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).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 ↗

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

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

Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.Semantic proximity Read ↗

Search for mutations in a segment of the exon 28 of the human von Willebrand factor gene: new mutations, R1315C and R1341W, associated with type 2M and 2B variants.Semantic proximity Read ↗

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

Characterization of three mutations causing von Willebrand disease type IIA in five unrelated families.Semantic proximity Read ↗

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