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Phenotypic Parameters in Genotypically Selected Type 2B von Willebrand Disease Patients: A Large, Single-Center Experience Including a New Novel Mutation.

Seminars in thrombosis and hemostasis - 1 Feb 2017

Woods Adriana Ines, Kempfer Ana Catalina, Paiva Juvenal, Sanchez-Luceros Analia, Bermejo Emilse, Chuit Roberto, Alberto Maria Fabiana, Blanco Alicia Noemi, Lazzari Maria Angela

Abstract excerpt

von Willebrand disease type 2B (VWD2B) expresses gain-of-function mutations that enhance binding of an individual's von Willebrand factor (VWF) to its platelet ligand, glycoprotein Ib (GPIb), and which are usually identified by increased ristocetin-induced platelet aggregation (RIPA). We describe here the phenotypic profile of 38 genotypically selected VWD2B-affected family members (AFMs) belonging to 19...

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Identifiers

PMID: 27978591
DOI: 10.1055/s-0036-1597293

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VWF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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