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Article

Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation.

British journal of haematology - 1 Jan 2000

Castaman G, Eikenboom J C, Lattuada A, Mannucci P M, Rodeghiero F

Abstract excerpt

We studied the proteolytic pattern of the mutant von Willebrand factor (VWF) in four patients with von Willebrand disease (VWD) who were either homozygous or hemizygous for the mutation C2362F. A significant decrease in the native fragment of 225 kDa was evident in all the patients, together with a marked increase in the 176 and 140 kDa fragments, a pattern usually observed in type 2A VWD. The proteolytic pattern...

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Source

Identifiers

PMID: 10651743
DOI: 10.1046/j.1365-2141.2000.01807.x

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.

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Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation.PMID 10651743Read ↗

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