Haematologica
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Haematologica, Vol 89, Issue 12, 1529-1530
Copyright © 2004 by Ferrata Storti Foundation

Case Reports

A novel Ser123Pro substitution in the MIDAS domain of integrin 3 associated with variant Glanzmann's thrombasthenia in an Indian patient

S Nair, K Ghosh, S Shetty, and D Mohanty

We report a novel 465T-->C (S123P) mutation in exon 3 of the GPIIIalpha gene in a patient with type III or variant Glanzmann's thrombasthenia (GT). Though this mutation did not affect fibrinogen binding to GPIIb-IIIalpha in activated platelets, it interfered with the platelet aggregation in a manner similar to GT.


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R. I. Handin
Inherited Platelet Disorders
Hematology, January 1, 2005; 2005(1): 396 - 402.
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Copyright © 2004 by the Ferrata Storti Foundation.