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[Identification of compound heterozygous mutations p.Gly400Val and p.Arg532Ter of the F11 gene in a Chinese patient with hereditary factor XI deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2018

Shu Kuangyi, Xu Kai, Li Fanfan, Chen Tao, Liu Jie, Jin Susu, Guo Jingjing, Zhang Zhaohua, Jiang Minghua

Abstract excerpt

OBJECTIVE: To investigate the phenotype and genotype defect characteristics of a Chinese patient with hereditary factor XI deficiency. METHODS: The activated partial thromboplastin time (APTT), prothrombin time (PT), FXI activity (FXI:C) of the proband and his relatives were measured by a clotting method using automatic coagulation analyzer. FXI antigen (FXI:Ag) was assayed by enzyme-linked immunosorbent assay...

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PMID: 30098248
DOI: 10.3760/cma.j.issn.1003-9406.2018.04.014

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AGA

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