[HTML][HTML] Three novel β-propeller mutations causing Glanzmann thrombasthenia result in production of normally stable pro-αIIb, but variably impaired progression of …
EJR Nelson, J Li, WB Mitchell, M Chandy… - Journal of Thrombosis …, 2005 - Elsevier
Background: Glanzmann thrombasthenia (GT) is an autosomal recessive bleeding disorder
characterized by lack of platelet aggregation in response to most physiological agonists and
caused by either a lack or dysfunction of the platelet integrin α IIb β 3 (glycoprotein IIb/IIIa).
Objectives: To determine the molecular basis of GT and characterize the mutations by in
vitro expression studies. Patients: We studied three unrelated patients from southern India
whose diagnosis was consistent with GT. Results: Immunoprecipitation of the cell lysates …
characterized by lack of platelet aggregation in response to most physiological agonists and
caused by either a lack or dysfunction of the platelet integrin α IIb β 3 (glycoprotein IIb/IIIa).
Objectives: To determine the molecular basis of GT and characterize the mutations by in
vitro expression studies. Patients: We studied three unrelated patients from southern India
whose diagnosis was consistent with GT. Results: Immunoprecipitation of the cell lysates …
