thrombasthenia

1. Phenotype and genotype diagnosis in five Chinese pedigrees with Glanzmann thrombasthenia
   五个遗传性血小板无力症家系的表型和基因型诊断
2. ObjectiveTo elucidate the genetic defects in patients with Glanzmann thrombasthenia ( GT) and set up the experimental basis for further exploring the pathogenesis of GT.
   明确血小板无力症患者的基因缺陷，为进一步探讨其发病机理奠定实验基础。
3. Objective: To improve the recognization of thrombasthenia.
   目的：提高对血小板无力症的认识。
4. Method: The clinical deta of one case of thrombasthenia was analyzed and the related literature was reviewed.
   方法：对1例血小板无力症进行分析，并复习国内外相关文献。
5. αⅱ bA477P ( A446P): A New Mutation Found in Patients with Glanzmann Thrombasthenia
   αⅡbA477P（A446P）&发生于血小板无力症患者的新突变
6. Thrombasthenia: A Case Report and Literature Review
   血小板无力症1例报告并文献复习
7. Flow cytometric diagnosis of Glanzmann's thrombasthenia
   流式细胞术诊断血小板无力症
8. Glanzmann's thrombasthenia is a bleeding disorder caused by qualitative and/ or quantitative difects of platelet membrane glycoprotein ( GP) II b/ III. complex.
   血小板无力症是由于血小板膜糖蛋白（GP）Ⅱb/Ⅲa：复合物质和/或量的异常所致的一种出血性疾病。
9. Red blood cell clot retraction: possible compensative mechanism for patients with Glanzmann thrombasthenia?
   红细胞收缩：血小板无力症的可能代偿机制？
10. Methods A female patient was diagnosed as Glanzmann thrombasthenia through the platelet count, the platelet morphology and distribution on the blood film, the bleeding time assay, the coagulation profiles and the platelet aggregation test.
    方法：通过血小板计数、血涂片观察血小板、出血时间测定、凝血象检查和血小板聚集试验进行表型诊断；
11. Objective To identify the mutation of integrin αⅱ b β 3 in four probands with Glanzmann thrombasthenia through phenotype and gene diagnosis and investigate molecular pathogenesis of GT.
    目的：对4例遗传性血小板无力症（GT）先证者及其父母进行表型和基因诊断，确定基因突变的位点，并探讨其分子发病机制。

noun

1. a rare autosomal recessive disease in which the platelets do not produce clots in the normal way and hemorrhage results