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[Genetic analysis of a Chinese pedigree affected with Congenital coagulation factor XII deficiency due to a c.1A>G start codon variant of F12 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2023

Ji Weidan, Lin Sen, Chen Jie, Jin Chaojun, Lin Xiaoyue, Ye Zhiyuan, Qiu Lijun, Qian Dingliang

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a consanguineous Chinese pedigree affected with Congenital coagulation factor XII (XII) deficiency. METHODS: Members of the pedigree who had visited Ruian People's Hospital on July 12, 2021 were selected as the study subjects. Clinical data of the pedigree were reviewed. Peripheral venous blood samples were taken from the subjects. Blood...

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PMID: 37102287
DOI: 10.3760/cma.j.cn511374-20221102-00750

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