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Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.

Thrombosis and haemostasis - 1 Sept 2006

Hilbert Lysiane, Nurden Paquita, Caron Claudine, Nurden Alan T, Goudemand Jenny, Meyer Dominique, Fressinaud Edith, Mazurier Claudine

Abstract excerpt

Type 2N von Willebrand disease (VWD) is characterized by a markedly decreased affinity of von Willebrand factor (VWF) for factorVIII (FVIII) and is caused by mutations in the D' or D3 domain of mature VWF. We now report a French patient with an atypical 2N VWD phenotype associating FVIII deficiency with plasmaVWF unable to bind FVIII (undetectableVWF:FVIIIB) but with an abnormal multimeric profile. This patient...

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PMID: 16953269
DOI: 10.1160/TH06-03-0157

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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.

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Type 2N von Willebrand disease due to compound heterozygosity for R854Q and a novel R763G mutation at the cleavage site of von Willebrand factor propeptide.PMID 16953269Read ↗

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