Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD.

doi:10.1182/bloodadvances.2021005895

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

Community

Back to search

Article

Multifaceted pathomolecular mechanism of a VWF large deletion involved in the pathogenesis of severe VWD.

Blood advances - 8 Feb 2022

Yadegari Hamideh, Jamil Muhammad Ahmer, Müller Jens, Marquardt Natascha, Rawley Orla, Budde Ulrich, El-Maarri Osman, Lillicrap David, Oldenburg Johannes

Abstract excerpt

An in-frame heterozygous large deletion of exons 4 through 34 of the von Willebrand factor (VWF) gene was identified in a type 3 von Willebrand disease (VWD) index patient (IP), as the only VWF variant. The IP exhibited severe bleeding episodes despite prophylaxis treatment, with a short VWF half-life after infusion of VWF/factor VIII concentrates. Transcript analysis confirmed transcription of normal VWF...

Read the complete abstract on PubMed

Topics

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

Share to Endothelial Cells
Share to P-Selectin
Share to Phenotype
Share to von Willebrand Factor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 34861678
DOI: 10.1182/bloodadvances.2021005895
PMCID: PMC8945295

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.