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[Identification of a novel heterozygous mutation in a pedigree with hereditary coagulation factor XII deficiency].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Jun 2015

Yang Lihong, Hao Xiuping, Wang Yingyu, Xie Haixiao, Jin Yanhui, Zhu Liqing, Wang Mingshan

Abstract excerpt

OBJECTIVE: To identify potential mutation underlying hereditary coagulation factor XII (FXII) deficiency in a pedigree and explore its molecular pathogenesis. METHODS: Activated partial thromboplastin time (APTT), FXII activity (FXII:C) and FXII antigen(FXII:Ag) and other coagulant parameters of the proband and 5 family members were measured. Potential mutations in the 14 exons and intron-exon boundaries of the...

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PMID: 26037346
DOI: 10.3760/cma.j.issn.1003-9406.2015.03.009

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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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