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  • Title: Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation.
    Author: de Raucourt E, de Mazancourt P, Maghzal GJ, Brennan SO, Mosesson MW.
    Journal: Thromb Haemost; 2005 Nov; 94(5):965-8. PubMed ID: 16363237.
    Abstract:
    We have identified a novel heterozygous fibrinogen gamma chain mutation, gammaN345S (Fibrinogen Saint-Germain II), in a subject with hypofibrinogenemia. There was no evidence by mass spectrometry of plasma fibrinogen containing the mutant chain. The hypofibrinogenemia was discovered in a 26-year-old man who experienced extensive deep venous thrombosis of the left leg associated with pulmonary embolism. Investigation of potential thromboembolic risk factors revealed heterozygosity of the factor V R506Q mutation (factor V Leiden) and heterozygosity of the prothrombin gene G20210A mutation. The hypofibrinogenemia may be contributory to the thrombophilic manifestations.
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