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[Analysis of A Pedigree with Hereditary Coagulation Factor Ⅻ Deficiency Caused by Compound Heterozygous Mutations].

Zhongguo shi yan xue ye xue za zhi - 1 Apr 2022

Chen Jing, Li Yun-Xia, Zhong Fan, Li Ren-Hua, Yang Ji-Yun, Zhou Wen-Jing

Abstract excerpt

OBJECTIVE: To analysis clinical phenotype and potential genetic cause of a family affected with hereditary coagulation factor Ⅻ deficiency. METHODS: The prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), D-Dimer (D-D), coagulation factor Ⅻ activity (FⅫ:C) and coagulation factor Ⅻ antigen (FⅫ:Ag) were determined for phenotype diagnosis of the proband and his family members(3...

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PMID: 35395999
DOI: 10.19746/j.cnki.issn.1009-2137.2022.02.042

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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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