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Article

[Genetic Analysis of A Case of Congenital Dysfibrinogenemia Caused by Arg16His Mutation in Exon 2 of FGA].

Zhongguo shi yan xue ye xue za zhi - 1 Oct 2017

Zhang Yong-Lu, Liu Shu-Yuan, Zhang Zhang-Lin, Tao Xiao-Yan, Peng Xiao-Xiao, Kong Yun-Yuan

Abstract excerpt

OBJECTIVE: To analyze the phenotype and genotype of a family with congenital dysfibrinogenemia. METHODS: Assays of coagulation, including activated partial thromboplastin time(APTT), pro-thrombin time(PT)and thrombin time(TT) were carried out with Sysmex CA-7000 in the proband and his family members. The quality and quantity of fibrinogen in plasma were determined by Clauss and electrophoresis, respectively....

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Identifiers

PMID: 29070135
DOI: 10.7534/j.issn.1009-2137.2017.05.041

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FGA

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