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[Phenotypic and genetic analysis of two pedigrees affected with hereditary antithrombin deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Apr 2016

Hao Xiuping, Jin Yanhui, Cheng Xiaoli, Yang Lihong, Zhu Liqing, Wang Mingshan

Abstract excerpt

OBJECTIVE: To explore the phenotype, genotype and molecular mechanism for two pedigrees affected with hereditary antithrombin (AT) deficiency. METHODS: Clinical diagnosis was validated by assaying of coagulation parameters including prothrombin time, activated partial thromboplastin time, thrombin time, fibrinogen, antithrombin activity (AT:A) and specific antigen (AT:Ag), protein C activity, as well as protein S...

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PMID: 27060302
DOI: 10.3760/cma.j.issn.1003-9406.2016.02.004

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