Haemophilia A mutations in patients with non-severe phenotype associated with a discrepancy between one-stage and chromogenic factor VIII activity assays.
作者:
主题词
血液凝固试验(Blood Coagulation Tests);生色化合物(Chromogenic Compounds);疾病恶化(Disease Progression);早期诊断(Early Diagnosis);因子Ⅷ(Factor VIII);基因检测(Genetic Testing);血友病A(Hemophilia A);人类(Humans);突变, 误义(Mutation, Missense);观察者偏差(Observer Variation);表型(Phenotype);蛋白质构象(Protein Conformation)
DOI
10.1160/TH13-08-0690
PMID
24452774
发布时间
2014-05-06
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