[Comparison of fibrinogen synthesis and secretion between novel variant fibrinogen, nagakute (gamma305Thr --> Ala), and other variants located in gamma305-308 residues].

Abstract excerpt

We found and identified a novel heterozygous dysfibrinogenemia with gammaT305A (ACA --> GCA) mutation in a 6-month old boy. Since his plasma antigenic concentration of fibrinogen was 1.12g/l and less than the lower limit of the reference interval, we guessed that the production of a variant fibrinogen might be a partial defect. To clarify this speculation, we altered the gamma-chain expression vector, transfected...

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