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Article

Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami.

Journal of thrombosis and haemostasis : JTH - 1 Sept 2016

Obser T, Ledford-Kraemer M, Oyen F, Brehm M A, Denis C V, Marschalek R, Montgomery R R, Sadler J E, Schneppenheim S, Budde U, Schneppenheim R

Abstract excerpt

UNLABELLED: Essentials Von Willebrand disease IIC Miami features high von Willebrand factor (VWF) with reduced function. We aimed to identify and characterize the elusive underlying mutation in the original family. An inframe duplication of VWF exons 9-10 was identified and characterized. The mutation causes a defect in VWF multimerization and decreased VWF clearance from the circulation. SUMMARY: Background A...

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Open in PubMed Open full text

Identifiers

PMID: 27344059
DOI: 10.1111/jth.13398
PMCID: PMC5035592

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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