Reduced collagen-induced platelet aggregation in obligate heterozygotes of a Glanzmann thrombasthenia variant with a β3 mutation

Thrombosis and Haemostasis

Volumn 88, Issue 2, 2002, Pages 364-365

  Nurden, Alan ^a   Jacquelin, Béatrice ^a   Tuleja, Ewa ^a   Combrié, Robert ^a   Nurden, Paquita ^a  

^a HAUT LÉVÊQUE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; ALPHA1 GLYCOPROTEIN; ALPHA2 BETA1 GLYCOPROTEIN; ALPHA2B BETA3 INTEGRIN; BETA3 INTEGRIN; CELL SURFACE PROTEIN; COLLAGEN; GLYCOPROTEIN; GLYCOPROTEIN VI; INTEGRIN; THROMBIN RECEPTOR ACTIVATING PEPTIDE; UNCLASSIFIED DRUG;

ALLELE; BLOOD TRANSFUSION; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; GLANZMANN DISEASE; HETEROZYGOTE; HUMAN; LETTER; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; THROMBOCYTE AGGREGATION; VON WILLEBRAND DISEASE;

EID: 0036332676     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-0037-1613215     Document Type: Letter

References (13)

1. Glanzmann's thrombasthenia: The spectrum of clinical disease
2. Inherited abnormalities of the platelet membrane: Glanzmann thrombasthenia, Bernard-Soulier syndrome, and other disorders
3. Integrin α2-deficient mice develop normally are fertile, but display partially defective platelet interaction with collagen
4. Glycoprotein VI but not α2β1 integrin is essential for platelet interaction with collagen
5. A novel Leu196 to Pro substitution in the β3 subunit of the αIIbβ3 integrin in a patient with a variant form of Glanzmann thrombasthenia
6. Platelet-collagen adhesion: Inhibition by a monoclonal antibody that binds glycoprotein IIb
7. Allele-dependent transcriptional regulation of the human integrin α2 gene
8. Novel platelet membrane glycoprotein VI dimorphism is a risk factor for myocardial infarction
9. A polymorphism of a platelet glycoprotein receptor as an inherited risk factor for coronary thrombosis
10. Kozak sequence polymorphism of the glycoprotein (GP) Ibα gene is a major determinant of the plasma membrane levels of the platelet GPIb-IX-V complex
11. 2-terminal globular domain of human platelet glycoprotein Ibα has a methionine145/threonine145 amino acid polymorphism, which is associated with the HPA-2 (Ko) alloantigens
12. Low platelt α2β1 levels in type I von Willebrand disease correlate with impaired platelet function in a high shear stress system
13. Detection of transfused platelets in a patient with Glanzmann thrombasthenia