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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.
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 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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