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Article

Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease.

Blood - 9 Jul 2015

Chen Junmei, Hinckley Jesse D, Haberichter Sandra, Jacobi Paula, Montgomery Robert, Flood Veronica H, Wong Randall, Interlandi Gianluca, Chung Dominic W, López José A, Di Paola Jorge

Abstract excerpt

Von Willebrand disease (VWD) is an inherited bleeding disorder characterized by incomplete penetrance and variable expressivity. We evaluated a 24-member pedigree with VWD type 2 caused by a T>G mutation at position 3911 that predicts a methionine to arginine (M1304R) change in the platelet-binding A1 domain of von Willebrand factor (VWF). This mutation manifests as an autosomal-dominant trait, with clinical and...

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Identifiers

PMID: 26019279
DOI: 10.1182/blood-2014-11-613935
PMCID: PMC4497966

Genes

VWF

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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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