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Phenotypic and genotypic characterization of 10 Finnish patients with von Willebrand disease type 3: discovery of two main mutations.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Nov 2013

Jokela V, Lassila R, Szanto T, Joutsi-Korhonen L, Armstrong E, Oyen F, Schneppenheim S, Schneppenheim R

Abstract excerpt

Severe von Willebrand's disease (VWD) type 3 is a rare autosomal-recessively inherited bleeding disorder, showing considerable genotypic heterogeneity. We investigated the phenotype in correlation with the genotype in Finnish type 3 VWD patients. Ten patients previously diagnosed with VWD type 3 treated at the Coagulation Disorder Unit in Helsinki University Hospital were re-evaluated for bleeding tendency and...

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PMID: 23834637
DOI: 10.1111/hae.12225

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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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