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Article

An assessment of the pathogenic significance of the R924Q von Willebrand factor substitution.

Journal of thrombosis and haemostasis : JTH - 1 Oct 2009

Berber E, James P D, Hough C, Lillicrap D

Abstract excerpt

BACKGROUND: Type 1 VWD is associated with mutational heterogeneity in the VWF gene. The R924Q substitution was the second most frequent sequence variation in the Canadian type 1 VWD study and this variant was also documented in other type 1 VWD studies. In this study, R924Q was detected in a comp...

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Source

Identifiers

PMID: 19624459
DOI: 10.1111/j.1538-7836.2009.03551.x

Genes

VWF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19624459-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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