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Journal Abstract Search

268 related items for PubMed ID: 20589319

  • 1. A C-terminal amino acid substitution in the gamma-chain caused by a novel heterozygous frameshift mutation (Fibrinogen Matsumoto VII) results in hypofibrinogenaemia.
    Fujihara N, Haneishi A, Yamauchi K, Terasawa F, Ito T, Ishida F, Okumura N.
    Thromb Haemost; 2010 Aug; 104(2):213-23. PubMed ID: 20589319
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  • 2. A frameshift mutation in the human fibrinogen Aalpha-chain gene (Aalpha(499)Ala frameshift stop) leading to dysfibrinogen San Giovanni Rotondo.
    Margaglione M, Vecchione G, Santacroce R, D'Angelo F, Casetta B, Papa ML, Grandone E, Di Minno G.
    Thromb Haemost; 2001 Dec; 86(6):1483-8. PubMed ID: 11776317
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  • 3. Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A.
    Mukai S, Nagata K, Ikeda M, Arai S, Sugano M, Honda T, Okumura N.
    Thromb Res; 2016 Dec; 148():111-117. PubMed ID: 27837696
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  • 7. Differences in the function and secretion of congenital aberrant fibrinogenemia between heterozygous γD320G (Okayama II) and γΔN319-ΔD320 (Otsu I).
    Mukai S, Ikeda M, Takezawa Y, Sugano M, Honda T, Okumura N.
    Thromb Res; 2015 Dec; 136(6):1318-24. PubMed ID: 26573395
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  • 11. Congenital hypofibrinogenemia associated with novel heterozygous fibrinogen Bbeta and gamma chain mutations.
    Castaman G, Giacomelli SH, Duga S, Rodeghiero F.
    Haemophilia; 2008 May; 14(3):630-3. PubMed ID: 18393984
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  • 12. A novel fibrinogen Bbeta chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia.
    Xu X, Wu J, Zhai Z, Zhou R, Wang X, Wang H, Ding K, Sun Z, Ni H.
    Thromb Haemost; 2006 Jun; 95(6):931-5. PubMed ID: 16732370
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  • 14. Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A'.
    Vorjohann S, Fish RJ, Biron-Andréani C, Nagaswami C, Weisel JW, Boulot P, Reyftmann L, de Moerloose P, Neerman-Arbez M.
    Thromb Haemost; 2010 Nov; 104(5):990-7. PubMed ID: 20806111
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