Article
Glanzmann's thrombasthenia: modulation of clinical phenotype by alpha2C807T gene polymorphism.
Haematologica - 1 Dec 2003
D'Andrea Giovanna, Margaglione Maurizio
Abstract excerpt
BACKGROUND AND OBJECTIVES: The expression of Glanzmann's thromboasthenia (GT) varies, even among patients carrying the same mutation. It is conceivable that other gene loci may influence the clinical expression of GT and lead to specific phenotypes. DESIGN AND METHODS: To investigate GT clinical heterogeneity we screened 25 GT patients with a known alpha(IIb)beta3 molecular defect for thrombophilic mutations (FV...
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