Abstract
The glycoprotein (GP) IIb-IIIa receptor (integrin aIIbb3) is expressed at high concentrations on the platelet surface, representing approximately 15% of the total surface protein. Glanzmann thrombasthenia is a well-characterized inherited disorder of platelet GPIIb-IIIa receptors and the hallmark of this disease is severely reduced or absent platelet aggregation in response to multiple physiologic agonists. Underlying this disorder are mutations in the GPIIb or GPIIIa genes resulting in qualitative or quantitative abnormalities of the platelet membrane GPIIb (aIIb: CD41) and/or GPIIIa (b3: CD61) subunits. The identification and characterization of naturally occuring DNA mutations causing Glanzmann thrombasthenia has provided a wealth of information on the biosynthesis and structure-function relationships of the platelet GPIIb/IIIa receptor. In addition, the molecular characterization of patients with this disorder has enabled DNA-based carrier detection and prenatal diagnoses to be performed.
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French, D. (1999). The Molecular Pathology of Glanzmann’s Thrombasthenia. In: Rao, G.H.R. (eds) Handbook of Platelet Physiology and Pharmacology. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-5049-5_18
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