title: A novel Ser123Pro substitution in the MIDAS domain of integrin 3 associated with variant Glanzmann's thrombasthenia in an Indian patient.
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.
authors.forename: Sona
authors.initials: S
authors.lastname: Nair
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Shrimati
authors.initials: S
authors.lastname: Shetty
authors.forename: Dipika
authors.initials: D
authors.lastname: Mohanty
mesh_terms: D019943:Amino Acid Substitution; D002648:Child; D003241:Consanguinity; D005091:Exons / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000378:metabolism; D005434:Flow Cytometry; D006801:Humans; D007194:India; D039661:Integrin beta3 / Q000737:chemistry / Q000235:genetics*; D020125:Mutation, Missense; D010974:Platelet Aggregation; D017354:Point Mutation; D011485:Protein Binding; D017434:Protein Structure, Tertiary / Q000235:genetics; D013915:Thrombasthenia / Q000235:genetics*
chemical_list: D039661:Integrin beta3; D005340:Fibrinogen