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Article

A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).

Journal of thrombosis and haemostasis : JTH - 1 Jul 2013

Pagliari M T, Baronciani L, Garcìa Oya I, Solimando M, La Marca S, Cozzi G, Stufano F, Canciani M T, Peyvandi F

Abstract excerpt

INTRODUCTION: We characterized four unrelated patients with von Willebrand disease type 2A/IIE, sharing the same von Willebrand factor (VWF) in-frame deletion (p.[P1127_G1180delinsR];[=]) resulting from exon 26 skipping (Δ26). OBJECTIVES: To identify the VWF mutations and how they caused the mRNA splicing alteration, to evaluate the deletion by in vitro expression studies, and to assess whether or not the...

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PMID: 23621778
DOI: 10.1111/jth.12280

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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.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A/IIE).PMID 23621778Read ↗

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