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[Analysis of a pedigree affected with hereditary coagulation factor XI deficiency due to compound heterozygous variants of F11 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2021

Yang Ting, Zhu Jin, Yang Qing, Liu Jun, Yang Liping, Wang Mingshan

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic basis for a Chinese pedigree affected with coagulation factor XI (FXI) deficiency. METHODS: Activated partial thromboplastin time (APTT) and other blood coagulation factors, and activities of FXI:C and other relevant coagulation factors for a large Chinese pedigree including 6 patients from 3 generations were determined on a Stago automatic coagulometer....

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PMID: 33751533
DOI: 10.3760/cma.j.cn511374-20200123-00047

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