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Article

Functional characterization of a 13-bp deletion (c.-1522_-1510del13) in the promoter of the von Willebrand factor gene in type 1 von Willebrand disease.

Blood - 4 Nov 2010

Othman Maha, Chirinian Yvette, Brown Christine, Notley Colleen, Hickson Nicholas, Hampshire Daniel, Buckley Suzanne, Waddington Simon, Parker Alan L, Baker Andrew, James Paula, Lillicrap David

Abstract excerpt

We have studied the effect of a 13-bp deletion in the promoter of the von Willebrand factor (VWF) gene in a patient with type 1 von Willebrand disease. The index case has a VWF:Ag of 0.49 IU/mL and is heterozygous for the deletion. The deletion is located 48 bp 5' of the transcription start site, and in silico analysis, electrophoretic mobility shift assays, and chromatin immunoprecipitation studies all predict...

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Identifiers

PMID: 20696945
DOI: 10.1182/blood-2009-12-261131
PMCID: PMC2981484

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VWF

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