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Article

Type 2B von Willebrand disease mutations differentially perturb autoinhibition of the A1 domain.

Blood - 9 Mar 2023

Legan Emily R, Liu Yi, Arce Nicholas A, Parker Ernest T, Lollar Pete, Zhang X Frank, Li Renhao

Abstract excerpt

Type 2B von Willebrand disease (VWD) is an inherited bleeding disorder in which a subset of point mutations in the von Willebrand factor (VWF) A1 domain and recently identified autoinhibitory module (AIM) cause spontaneous binding to glycoprotein Ibα (GPIbα) on the platelet surface. All reported type 2B VWD mutations share this enhanced binding; however, type 2B VWD manifests as variable bleeding complications...

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Source

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Identifiers

PMID: 36580664
DOI: 10.1182/blood.2022017239
PMCID: PMC10023833

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.

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