Article
Identification and functional characterization of a novel 27-bp deletion in the macroglycopeptide-coding region of the GPIBA gene resulting in platelet-type von Willebrand disease.
Blood - 1 Jun 2005
Othman Maha, Notley Colleen, Lavender Frances Louise, White Helen, Byrne Christopher D, Lillicrap David, O'Shaughnessy Denise Frances
Abstract excerpt
Interaction between the platelet glycoprotein Ibalpha (GPIbalpha) receptor and its adhesive ligand von Willebrand factor (VWF) has a critical role in the process of hemostasis. Platelet-type von Willebrand disease (PT-VWD) is a rare bleeding disorder that results from gain-of-function mutations in the GPIBA gene. We studied this gene from 5 members of a previously unreported family with a PT-VWD phenotype. We...
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