Glanzmann's thrombasthenia: Modulation of clinical phenotype by α2C807T gene polymorphism

Haematologica

Volumn 88, Issue 12, 2003, Pages 1378-1382

  D'Andrea, Giovanna ^b   Margaglione, Maurizio ^a  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b UNIVERSITY OF FOGGIA   (Italy)

Author keywords

Clinical heterogeneity; Genes; Glanzmann's thrombasthenia; Integrins; Polymorphisms

Indexed keywords

INTEGRIN; THROMBOCYTE RECEPTOR; THROMBOCYTE RECEPTOR ALPHA2BETA1; UNCLASSIFIED DRUG;

ALLELE; ALPHA2C807T GENE; ARTICLE; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA POLYMORPHISM; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GLANZMANN DISEASE; HUMAN; MALE; PHENOTYPE; THROMBOCYTE;

3' UNTRANSLATED REGIONS; ALLELES; AMINO ACID SUBSTITUTION; FACTOR V; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEMORRHAGIC DISORDERS; HUMANS; INTEGRIN ALPHA2BETA1; MALE; PHENOTYPE; PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX; PLATELET MEMBRANE GLYCOPROTEIN IIB; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTHROMBIN; SEVERITY OF ILLNESS INDEX; STRUCTURE-ACTIVITY RELATIONSHIP; THROMBASTHENIA;

EID: 0346102708     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Phillips DR, Charo IF, Scarborough RM. GPIIb-IIIa: the responsive integrin. Cell 1991;65:359-62.
2. Caen JP, Castaldi PA, Lederc JC. Congenital bleeding disorders with long bleeding time and normal platelet count. I. Glanzmann's thromboasthenia (reports on fifteen patients). Am J Med 1966;41:4-26.
3. George JN, Nurden AT, Phillips DR. Molecular defects in interactions of platelets with the vessel wall. N Engl J Med 1984;311:1084-98.
4. Phillips DR, Charo IF, Parise LV, Fitzgerald LA. The platelet membrane glycoprotein IIb-IIIa complex. Blood 1988;71:831-43.
5. Caen JP. Glanzmann's thromboasthenia. Clin Haematol 1972;1:383-92.
6. George JN, Caen JP, Nurden AT. Glanzmann's thromboasthenia: the spectrum of clinical disease. Blood 1990;75:1383-95
7. Badado JL, Katsanis N. Beyond Mendel: an evolving view of human genetic transmission. Nature Rev Genet 2002;3:779-89.
8. Ardissino D, Mannucci PM, Merlini PA, Duca F, Fetiveau R, Tagliabue L, et al. Prothrombotic genetic risk factors in young survivors of myocardial infarctio. Blood 1999;94:46-51.
9. D'Andrea G, Colaizzo D, Vecchione G, Grandone E, Di Minno G, Margaglione M. Glanzmann's thrombasthenia: identification of 19 new mutations in 30 patients. The Glanzmann's Thrombasthenia Italian Team (GLATIT). Thromb Haemost 2002;87:1034-42.
10. Margaglione M, Brancaccio V, Giuliani N, D'Andrea G, Cappucci G, lannaccone L, et al. Increased risk for venous thrombosis in carriers of the prothrombin G→A20210 gene variant. Ann Intern Med 1998;129:89-93.
11. 1 levels in type Ivon Willebrand disease correlate with impaired platelet function in a high shear stress system. Blood 1999;93:3578-82.
12. Sharp WJ, Khanduri UD, Christie BS. Rapid heterozygote detection in Glanzmann's thrombasthenia. Br J Haematol 1998;101:66-9.
13. 2 gene coding sequence. Blood 1997;89:1939-43.
14. Nieuwenhuis HK, Akkerman JW, Houdijk WP, Sixma JJ. Human blood platelets showing no response to collagen fail to express glycoprotein Ia. Nature 1985;318:470-2.