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Article

Genetic Variation in the Syntaxin-Binding Protein STXBP5 in Type 1 von Willebrand Disease Patients.

Thrombosis and haemostasis - 1 Aug 2018

Lind-Halldén Christina, Manderstedt Eric, Carlberg Daniel, Lethagen Stefan, Halldén Christer

Abstract excerpt

von Willebrand factor (VWF) levels in healthy individuals and in patients with type 1 von Willebrand disease (VWD) are influenced by genetic variation in several genes, for example, VWF, ABO and STXBP5. Here, we comprehensively screen for STXBP5 variants and investigate their association with type 1 VWD in Swedish patients and controls. The coding region of the STXBP5 gene was re-sequenced in 107 type 1 VWD...

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Identifiers

PMID: 29972863
DOI: 10.1055/s-0038-1661352

Genes

STXBP5
VWF
ABO

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