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Article

Combined partial exon skipping and cryptic splice site activation as a new molecular mechanism for recessive type 1 von Willebrand disease.

Thrombosis and haemostasis - 1 Dec 2006

Gallinaro Lisa, Sartorello Francesca, Pontara Elena, Cattini Maria Grazia, Bertomoro Antonella, Bartoloni Lucia, Pagnan Antonio, Casonato Alessandra

Abstract excerpt

We describe the complex picture associated with a mutated splice junction in intron 13 of von Willebrand factor (VWF) gene. The proband, characterized by a marked decrease in plasma and platelet VWF and near normal multimer organization, was classified as recessive type 1 von Willebrand disease (VWD). Genetic analysis demonstrated that he was homozygous for the 1534-3C > A mutation in the consensus sequence of...

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PMID: 17139363

Genes

VWF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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