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[Analysis of two pedigrees affected with inherited dysfibrinogenemia due to a novel c.1115 T>A variant of the FGB gene].

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

Wang Xiaoou, Yao Yating, Lin Suzhen, Wang Jinle, Shu Kuangyi, Ai Xinyi, Jiang Minghua

Abstract excerpt

OBJECTIVE: To analyze the phenotype and genotype of two Chinese family with inherited dysfibrinogenemia and the molecular pathogenic mechanism. METHODS: In the probands and their family members, coagulation routine, fibrinogen activity (Fg: A) and fibrinogen antigen (Fg: Ag) were detected. To find the mutation and exclude single nucleotide polymorphisms, all the exons and exons-intron boundaries of fibrinogen...

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Identifiers

PMID: 35773760
DOI: 10.3760/cma.j.cn511374-20210920-00765

Genes

FGB
FGA
FGG

Variants

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