Article
Two symptomatic cases of dysfibrinogenemia in China: one with gamma-chain Arg275Cys mutation and another without detectable mutation in fibrinogen genes.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Jul 2015
Bin Qiong, Liang Fang, Ou Dan-yan, Cui Hai-rong, Luo Jian-ming
Abstract excerpt
The aim of this study was to investigate causative mutations of two unrelated symptomatic Chinese children with dysfibrinogenemia and their family members.Fibrinogen genes, including FGA, FGB and FGG of all participants were PCR-amplified, followed by direct sequencing. Precipitated plasma fibrinogen of some family members was analyzed by western blotting, fibrin polymerization and scanning electron microscopy...
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