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[Pedigree Analysis of Hereditary Coagulation Factor XII Deficiency Caused by Compound Heterozygous Mutation p.Gly175Cys and p.Gly542Ser of F12 Gene].

Zhongguo shi yan xue ye xue za zhi - 1 Jun 2024

Cheng Xiao-Li, Yang Ting, Yang Liu, Xin Yi-Juan, He Mu, Zhu Lin, Liu Jia-Yun

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and gene mutation of a genetic coagulation factor XII (FXII) deficiency pedigree and explore the molecular pathogenesis. METHODS: The activated partial thromboplastin time (APTT) and FXII activity (FXII:C) were detected by clotting method. The FXII antigen (FXII:Ag) was tested with ELISA. All exons and flanks of F12 gene were determined by Sanger sequencing....

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Identifiers

PMID: 38926981
DOI: 10.19746/j.cnki.issn.1009-2137.2024.03.033

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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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