Homozygous Cys542Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia
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چکیده
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prevalence of atopic dermatitis in children with type 1 diabetes mellitus in southeastern of iran (kerman province): a case-control study
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15 صفحه اولPlatelet function in a patient with thrombasthenia.
PLASMA CLOTTING FACTOR is deficient in most of the “experiments of nature” that have helped to further our understanding of the mechanism of blood coagulation and hemostasis, but in thrombasthenia the defect lies in the platelets which are unable to promote clot retraction. Thrombasthenic patients usually have a mild to moderately severe hemorrhagic diathesis, with a prolonged bleeding time. Th...
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Background: Activated normal platelets undergo many biochemical and morphological changes, some of which are apoptotic. Platelet derived microparticles and shrinked platelets as hallmark of platelet activation and apoptosis disperse surfaces containing procoagulant activity around injured vessels and tissues. This study was conducted to determine microparticles formation and platelet shrinkage ...
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A 20-year-old woman from a consanguineous family in the Hunan Province of the People's Republic of China was diagnosed as having Glanzmann's thrombasthenia based on (1) nearly a lifelong history of epistaxis, gum bleeding, petechiae, and purpura; (2) severe menorrhagia resulting in anemia and need for whole-blood transfusion; (3) normal coagulation assays; (4) prolonged bleeding time; (5) absen...
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We report a unique glycine substitution in type I collagen and highlight the clinical and biochemical consequences. The proband is a 9 year old Turkish boy with severely deforming osteogenesis imperfecta (OI). Biochemical analysis of (pro) collagen type I from a skin fibroblast culture showed both normal and overmodified alpha chains. Molecular analysis showed a G>T transversion in the COL1A2 g...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 1999
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.1999.01376.x