Article
A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation.
The Journal of clinical investigation - 1 Jun 1992
Lanza F, Stierlé A, Fournier D, Morales M, André G, Nurden A T, Cazenave J P
Abstract excerpt
We describe a new variant of Glanzmann's thrombasthenia (variant Strasbourg I). The patient (M.S.) showed an absence of platelet aggregation to ADP, thrombin, and collagen, and a decreased clot retraction. Platelet fibrinogen was approximately 20% of normal levels. ADP-stimulated platelets bound markedly reduced amounts of soluble fibrinogen and platelet adhesion to surface-bound fibrinogen was defective. Normal...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Blood Platelets
- DNA
- DNA Mutational Analysis
- Electrophoresis, Polyacrylamide Gel
- Female
- Fibrinogen
- Humans