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Genetic analysis and functional characterization of prothrombins Corpus Christi (Arg382-Cys), Dhahran (Arg271-His), and hypoprothrombinemia.

Blood - 1 Oct 1996

O'Marcaigh A S, Nichols W L, Hassinger N L, Mullins J D, Mallouh A A, Gilchrist G S, Owen W G

Abstract excerpt

The structural abnormalities and functional characteristics of dysfunctional prothrombin variants in two new kindreds have been determined. Prothrombin Corpus Christi (family 1) was purified and found to have markedly reduced fibrinogen clotting activity, yet normal amidolytic and near-normal platelet aggregating activity. A transition (C to T) at nucleotide position 8885, present in the heterozygous form in...

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PMID: 8839854

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