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[Identification of novel compound heterozygous variants in a pedigree affected with hereditary coagulation factor XI deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2020

Xia Hong, Li Xiaolong, Zhu Liqing, Jin Yanhui, Yang Lihong, Pan Jingye, Zhang Haiyue, Wang Mingshan

Abstract excerpt

OBJECTIVE: To analyze the phenotype and genetic basis for a pedigree affected with hereditary coagulation factor XI deficiency. METHODS: Activated partial thromboplastin time (APTT), prothrombin time (PT), fibrinogen (FIB), FXI activity (FXI:C) and the antigen of FXI (FXI:Ag) were determined for the proband and members from his pedigree. Sanger sequencing was used to analyze all exons, exon-intronic boundaries,...

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PMID: 32335872
DOI: 10.3760/cma.j.issn.1003-9406.2020.05.002

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