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Article

Characterisation of von Willebrand factor A1 domain mutants I1416N and I1416T: correlation of clinical phenotype with flow-based platelet adhesion.

Journal of thrombosis and haemostasis : JTH - 1 Jul 2012

McKinnon T A J, Nowak A A, Cutler J, Riddell A F, Laffan M A, Millar C M

Abstract excerpt

BACKGROUND: Type 2M von Willebrand disease (VWD) results from mutations in the A1 domain of von Willebrand factor (VWF) that reduce its platelet-binding function. However, currently employed VWF functional static assays may not distinguish between clinical phenotype. METHODS: Fifteen individuals from five kindreds with VWF-A1 domain mutations I1416T or I1416N, correlated with mild and moderate clinical...

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Source

Identifiers

PMID: 22537243
DOI: 10.1111/j.1538-7836.2012.04760.x

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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