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A variant thrombasthenic phenotype associated with compound heterozygosity of integrin beta3-subunit: (Met124Val)beta3 alters the subunit dimerization rendering a decreased number of constitutive active alphaIIbbeta3 receptors.
González-Manchón C, Butta N, Larrucea S, Arias-Salgado EG, Alonso S, López A, Parrilla R. González-Manchón C, et al. Among authors: parrilla r. Thromb Haemost. 2004 Dec;92(6):1377-86. doi: 10.1160/TH04-06-0380. Thromb Haemost. 2004. PMID: 15583747
Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes.
González-Manchón C, Fernández-Pinel M, Arias-Salgado EG, Ferrer M, Alvarez MV, García-Muñoz S, Ayuso MS, Parrilla R. González-Manchón C, et al. Among authors: parrilla r. Blood. 1999 Feb 1;93(3):866-75. Blood. 1999. PMID: 9920835 Free article.
135 results