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Article

Identification of p.W246L as a novel mutation in the GP1BA gene responsible for platelet-type von Willebrand disease.

Seminars in thrombosis and hemostasis - 1 Mar 2014

Woods Adriana I, Sanchez-Luceros Analia, Bermejo Emilse, Paiva Juvenal, Alberto Maria F, Grosso Silvia H, Kempfer Ana C, Lazzari Maria A

Abstract excerpt

Platelet-type von Willebrand disease (PT-VWD) and type 2B von Willebrand disease (2B-VWD) are rare bleeding disorders characterized by increased ristocetin-induced platelet aggregation (RIPA) at low concentrations of ristocetin. Diagnosis of either condition is not easy and the differential diagnosis between the two entities is especially challenging as evidenced by high levels of misdiagnosis of both conditions,...

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Identifiers

PMID: 24474090
DOI: 10.1055/s-0033-1364183

Genes

VWF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of p.W246L as a novel mutation in the GP1BA gene responsible for platelet-type von Willebrand disease.PMID 24474090Read ↗

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