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Article

Loss of cysteine 584 impairs the storage and release, but not the synthesis of von Willebrand factor.

Thrombosis and haemostasis - 1 Dec 2014

Daidone V, Barbon G, Pontara E, Cattini G M, Gallinaro L, Zampese E, Pizzo P, Casonato A

Abstract excerpt

Cysteines play a key part in von Willebrand factor (VWF) dimerisation and polymerisation, and their loss may severely affect VWF structure and function. We report on three patients with type 3 von Willebrand disease carrying the new c.1751G>T missense mutation that induces the substitution of cysteine 584 by phenylalanine (C584F), and the deletion of seven nucleotides in exon 7 (c.729_735del), producing a...

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PMID: 25230768
DOI: 10.1160/TH14-04-0391

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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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