Article
Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.
Blood - 1 Mar 1998
Grimaldi C M, Chen F, Wu C, Weiss H J, Coller B S, French D L
Abstract excerpt
Glanzmann thrombasthenia is an inherited bleeding disorder due to a functional reduction or absence of platelet GPIIb/IIIa (alphaIIbbeta3) integrin receptors. Based on a prolonged bleeding time and absence of platelet aggregation in response to physiologic agonists, a 55-year-old white man was diagnosed as having Glanzmann thrombasthenia. The patient's platelet fibrinogen level was approximately 5% of normal. As...
Topics
- Animals
- Bleeding Time
- Blood Platelets
- CHO Cells
- Cricetinae
- Dual Specificity Phosphatase 2
- Fibrinogen
- Humans
- Immunosorbent Techniques
- Leucine
- Male
- Middle Aged
- Mutation
- Platelet Aggregation
- Platelet Glycoprotein GPIIb-IIIa Complex