نتایج جستجو برای: glanzmann thrombasthenia
تعداد نتایج: 568 فیلتر نتایج به سال:
Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
glanzmann’s thrombasthenia (gt) is an autosomal recessive inherited platelet function defect characterized by normal platelet count, prolonged bleeding time and abnormal clot retraction. this disease typically presents in infancy or early childhood and has proven to have very good prognosis. in this case study, a 22‑year‑old gt patient who also developed human immunodeficiency virus (hiv) infec...
background: the most common polymorphisms identified in the methylenetetrahydrofolate reductase (mthfr) gene, c677t and a1298c lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. there are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like glanzmann's t...
Glanzmann thrombasthenia (GT) is an inherited bleeding disorder due to either absence or dysfunction of fibrinogen binding receptors, i.e either GPIIb (GPIIβ) or GPIIIa (GPIIIα) on platelet membrane. The complete fibrinogen receptor, i.e. GPIIβGPIII which binds fibrinogen on activated platelets involves association of these two glycoproteins. Absence of either or both of these receptors can, th...
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