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Article

Discordant von Willebrand factor (VWF) activity in patients with VWF p.Gly1324Ser confirmed in vitro.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2018

Bowman M, Rimmer E, Houston D S, Israels S J, James P

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Identifiers

PMID: 29341351
DOI: 10.1111/hae.13401

Genes

VWF

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Related research

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Discordant von Willebrand factor (VWF) activity in patients with VWF p.Gly1324Ser confirmed in vitro.PMID 29341351Read ↗

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Type 2B von Willebrand Disease: A Matter of Plasma Plus Platelet Abnormality.Semantic proximity Read ↗

C1272S: a new candidate mutation in type 2A von Willebrand disease that disrupts the disulfide loop responsible for the interaction of VWF with platelet GP Ib-IX.Semantic proximity Read ↗

A new L1446P mutation is responsible for impaired von Willebrand factor synthesis, structure, and function.Semantic proximity Read ↗

A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: an elusive phenotype and a difficult diagnosis.Semantic proximity Read ↗

Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain.Semantic proximity Read ↗

Discrepant platelet and plasma von Willebrand factor in von Willebrand disease patients with p.Pro2808Leufs*24.Semantic proximity Read ↗

Type 2 von Willebrand disease causing defective von Willebrand factor-dependent platelet function.Semantic proximity Read ↗

A type 2b von Willebrand disease mutation (Ile546-->Val) associated with an unusual phenotype.Semantic proximity Read ↗

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