[Functional study of abnormal fibrinogen caused by Arg275His mutation in fibrinogen γ chain].

doi:10.3760/cma.j.issn.0253-2727.2013.03.002

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Article

[Functional study of abnormal fibrinogen caused by Arg275His mutation in fibrinogen γ chain].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 1 Mar 2013

Zhou Jing-yi, Wang Xue-feng, Ding Qiu-lan, Xu Guan-qun, Zhang Li-wei, Dai Jing, Lu Ye-ling, Xi Xiao-dong, Wang Hong-li

Abstract excerpt

OBJECTIVE: To investigate the function of abnormal fibrinogen in two inherited dysfibrinogenemia pedigrees. METHODS: Routine coagulation tests were conducted in the probands and related family members. The antigen and activity levels of fibrinogen were detected by immunoturbidimetry assay and clauss assay, respectively. All the exons and exon-intron boundaries of the three fibrinogen genes and antithrombin...

Topics

Adult
Afibrinogenemia
Child
Female
Fibrinogen
Fibrinogens, Abnormal
Genotype
Humans
Male
Mutation
Pedigree
Phenotype

Source

Open in PubMed

Identifiers

PMID: 23683413
DOI: 10.3760/cma.j.issn.0253-2727.2013.03.002

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