Article
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.
Thrombosis and haemostasis - 1 Dec 2004
González-Manchón Consuelo, Butta Nora, Larrucea Susana, Arias-Salgado Elena G, Alonso Sonia, López Angela, Parrilla Roberto
Abstract excerpt
We report the analysis of a variant case of thrombasthenic phenotype that is a compound heterozygote for two mutations located within the metal ion dependent adhesion site (MIDAS) of the beta3 subunit. The patient inherited a maternal allele carrying the Met124Val substitution and a paternal allele that changes Asp119 to Tyr. Phenotyping of the human platelet antigen 1 (HPA-1) showed that the platelet...
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