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Article

Functional analysis of three recombinant A1-VWF domain mutants in comparison to wild type and plasma-derived VWF facilitates subtyping in type 2 von Willebrand disease.

Thrombosis research - 1 Feb 2011

Chegeni Rouzbeh, Vickars Linda, Favaloro Emmanuel J, Lillicrap David, Othman Maha

Abstract excerpt

Phenotypic diagnosis of VWD, in particular type 2, is challenging. Molecular diagnosis may fail to provide clarity since mutations within a short stretch of the same domain may cause various phenotypes, and since even experts will ascribe different subtypes to similar mutations. We assessed diagn...

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Source

Identifiers

PMID: 21094983
DOI: 10.1016/j.thromres.2010.11.006

Genes

VWF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21094983-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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