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Article

A novel γ-chain mutation p.Asp318His in a Chinese family with dysfibrinogenemia.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2024

Zhang Haiyue, Shen Weifeng

Abstract excerpt

BACKGROUND: Congenital dysfibrinogenemia is characterized by reduced fibrinogen activity, but normal immunoreactive fibrinogen levels. Here, we present a novel case with an elevated risk of thrombosis. METHODS: Coagulation assays, gene analysis, in silico tools, sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE), fibrin polymerization, thrombin generation assay, and electron microscopy scanning...

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PMID: 39526667
DOI: 10.1097/MBC.0000000000001329

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