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[Two cases of coagulation factor Ⅺ deficiency caused by compound heterozygous mutations].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2022

Li Qian, Zhou Min, Xu Yong, Zeng Hui, Xu Yueyi, Xu Peipei, Chen Bing, Zhou Rongfu

Abstract excerpt

OBJECTIVE: To investigate the molecular pathogenesis of two coagulation factor Ⅺ (FⅪ) deficiency patients. METHODS: Coagulant assays: activated partial thromboplastin time (APTT), normal pooled-plasma corrected APTT test, PT, PT-INR and one-stage assay of coagulation factors activities were validated to diagnose coagulation factor Ⅺ deficiency. The patients' DNA samples were extracted and all exons and flanking...

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Identifiers

PMID: 35773762
DOI: 10.3760/cma.j.cn511374-20201112-00793

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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