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Article

Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin.

Thrombosis and haemostasis - 1 Apr 1998

Eikenboom J C, Castaman G, Vos H L, Bertina R M, Rodeghiero F

Abstract excerpt

The genetic defects causing recessive type 1 and type 3 von Willebrand disease (VWD) in eight families from the northern part of Italy have been investigated. Mutations were identified in 14 of the 16 disease-associated von Willebrand factor (VWF) genes. Only one mutation, a stop codon in exon 45, was previously reported. Several new mutations were identified: one cytosine insertion in exon 42, one guanine...

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Identifiers

PMID: 9569178

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.

Related research

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Characterization of the genetic defects in recessive type 1 and type 3 von Willebrand disease patients of Italian origin.PMID 9569178Read ↗

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Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.Semantic proximity Read ↗

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Mutation distribution in the von Willebrand factor gene related to the different von Willebrand disease (VWD) types in a cohort of VWD patients.Semantic proximity Read ↗

Two novel mutations identified in a type 3 von Willebrand disease patient.Semantic proximity Read ↗

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