Identification of one novel pathogenic <i>ITGB3</i> mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.
作者:
主题词
等位基因(Alleles);血小板(Blood Platelets);DNA突变分析(DNA Mutational Analysis);遗传关联研究(Genetic Association Studies);疾病遗传易感性(Genetic Predisposition to Disease);基因型(Genotype);人类(Humans);免疫表型分型(Immunophenotyping);整合素β3(Integrin beta3);模型, 分子(Models, Molecular);突变(Mutation);系谱(Pedigree);表型(Phenotype);血小板聚集(Platelet Aggregation);血小板功能试验(Platelet Function Tests);血小板糖蛋白GPⅡb-Ⅲa复合物(Platelet Glycoprotein GPIIb-IIIa Complex);蛋白质构象(Protein Conformation);构效关系(Structure-Activity Relationship);血小板无力症(Thrombasthenia)
DOI
10.1080/09537104.2019.1615614
PMID
31088191
发布时间
2020-09-21
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Platelets
355-359页
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