Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Diagnostic challenges in patients with bleeding phenotype and von Willebrand exon 28 polymorphism p.D1472H.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2014

Francis J C, Hui S K, Mahoney D, Dietrich J E, Friedman K D, Soundar E, Srivaths L V

Abstract excerpt

Exon 28 polymorphism p.D1472H is associated with significantly lower von Willebrand Ristocetin cofactor activity (VWF:RCoF) to von Willebrand antigen (VWF:Ag) ratio compared to normal, but has been reported as not conferring haemorrhagic risk. The impact of this polymorphism while assessing symptomatic patients for von Willebrand disease (VWD) has not been previously analysed. We retrospectively reviewed charts...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hemorrhage

Share to Infant

Share to Polymorphism, Genetic

Share to von Willebrand Diseases

Share to von Willebrand Factor

Source

Identifiers

PMID: 24581275
DOI: 10.1111/hae.12384

Genes

VWF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diagnostic challenges in patients with bleeding phenotype and von Willebrand exon 28 polymorphism p.D1472H.PMID 24581275Read ↗

Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleeding.Semantic proximity Read ↗

Challenges in defining type 2M von Willebrand disease: results from a Canadian cohort study.Semantic proximity Read ↗

New mutations in exon 28 of the von Willebrand factor gene detected in patients with different types of von Willebrand's disease.Semantic proximity Read ↗

Phenotypic and genotypic (exon 28) characterization of patients diagnosed with von Willebrand disease type 1 in Eastern Saudi Arabia.Semantic proximity Read ↗

Diagnostic pitfalls and conundrums in type 1 von Willebrand disease.Semantic proximity Read ↗

Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor.Semantic proximity Read ↗

Frequency of platelet type versus type 2B von Willebrand disease. An international registry-based study.Semantic proximity Read ↗

Discordant von Willebrand factor (VWF) activity in patients with VWF p.Gly1324Ser confirmed in vitro.Semantic proximity Read ↗

C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX.Semantic proximity Read ↗

The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease: co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype.Semantic proximity Read ↗

Prospective study of low-dose ristocetin-induced platelet aggregation to identify type 2B von Willebrand disease (VWD) and platelet-type VWD in children.Semantic proximity Read ↗

Distribution of von Willebrand factor levels in young women with and without bleeding symptoms: influence of ABO blood group and promoter haplotypes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.