Abstract
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.
MeSH terms
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Amino Acid Substitution*
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Child
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Consanguinity
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Exons / genetics
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Female
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Fibrinogen / metabolism
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Flow Cytometry
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Humans
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India
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Integrin beta3 / chemistry
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Integrin beta3 / genetics*
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Mutation, Missense*
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Platelet Aggregation
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Point Mutation*
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Protein Binding
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Protein Structure, Tertiary / genetics
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Thrombasthenia / genetics*
Substances
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Integrin beta3
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Fibrinogen