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GPIb[alpha], GPIb[beta] and GPIX, encoded by the GPIBA, GP1BB and GP9 genes, are all required for efficient expression of the complex on the platelet surface, while absence of GPV does not appear to affect receptor expression or VWF binding.
GPIba, GPIX, and GPV form a complex that binds Von Willebrand factor, and thus plays an important role in the initial process of platelet aggregation.
By using PCR, different polymorphic variants of GPIB a together with GPIX were cloned.
The GPIb complex is a heptamer composed of 4 distinct gene products: 2 molecules of GPIb[alpha], 2 of GPIb[beta], 2 of GPIX, and 1 of GPV.
Most of the genetic defects are due to mutations of the GPIba gene, but may also be due to defects of the GPIbI3 or GPIX genes.
Most of the Bernard-Soulier genetic defects are due to mutations of the GPIb[alpha] gene, but may also be due to defects of the GPIb[beta] or GPIX genes.
The GPIX software, which can be downloaded free-of-charge at http://www.
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