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Article

A novel type 2A von Willebrand factor mutation (V1499E) associated with variable clinical expression.

Journal of pediatric hematology/oncology - 1 Apr 2009

van den Heuvel Esther, de Laat Bas, Eckmann Carel M, Michiels Jan J, Schneppenheim Reinhard, Budde Ulrich, van Mourik Jan A, Versteegh Florens G A

Abstract excerpt

We have identified a previously unreported mutation, V1499E, with a high penetrance in a family with type 2A von Willebrand disease. Affected family members were difficult to identify owing to variable von Willebrand factor (VWF) levels, variable expression of VWF multimers, and clinical symptoms. Recombinant V1499E-VWF was more readily cleaved by ADAMTS13 than the wild-type protein, suggesting that V1499E is the...

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Source

Identifiers

PMID: 19346881
DOI: 10.1097/MPH.0b013e31819d9119

Genes

VWF
ADAMTS13

Provenance

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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