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Journal Abstract Search

245 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
    [Abstract] [Full Text] [Related]

  • 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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  • 6. Hypofibrinogenaemia caused by a novel FGG missense mutation (W253C) in the gamma chain globular domain impairing fibrinogen secretion.
    Vu D, de Moerloose P, Batorova A, Lazur J, Palumbo L, Neerman-Arbez M.
    J Med Genet; 2005 Sep; 42(9):e57. PubMed ID: 16141000
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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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  • 8. Novel fibrinogen mutation (gamma 313 Ser-->Asn) associated with hypofibrinogenemia in two unrelated families.
    Meyer M, Bergmann F, Brennan SO.
    Blood Coagul Fibrinolysis; 2006 Jan; 17(1):63-7. PubMed ID: 16607083
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  • 10. Fibrinogen St. Gallen I (gamma 292 Gly--> Val): evidence for structural alterations causing defective polymerization and fibrinogenolysis.
    Stucki B, Schmutz P, Schmid L, Haeberli A, Lämmle B, Furlan M.
    Thromb Haemost; 1999 Feb; 81(2):268-74. PubMed ID: 10064005
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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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  • 13. Recombinant variant fibrinogens substituted at residues gamma326Cys and gamma339Cys demonstrated markedly impaired secretion of assembled fibrinogen.
    Haneishi A, Terasawa F, Fujihara N, Yamauchi K, Okumura N, Katsuyama T.
    Thromb Res; 2009 Jul; 124(3):368-72. PubMed ID: 19419756
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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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  • 15. A novel fibrinogen variant--Liberec: dysfibrinogenaemia associated with gamma Tyr262Cys substitution.
    Kotlín R, Sobotková A, Suttnar J, Salaj P, Walterová L, Riedel T, Reicheltová Z, Dyr JE.
    Eur J Haematol; 2008 Aug; 81(2):123-9. PubMed ID: 18485115
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  • 16. Fibrinogen residue γAla341 is necessary for calcium binding and 'A-a' interactions.
    Park R, Ping L, Song J, Hong SY, Choi TY, Choi JR, Gorkun OV, Lord ST.
    Thromb Haemost; 2012 May; 107(5):875-83. PubMed ID: 22437918
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  • 17. Hypofibrinogenemia due to novel 316 Asp --> Tyr substitution in the fibrinogen Bbeta chain.
    Brennan SO, Wyatt JM, May S, De Caigney S, George PM.
    Thromb Haemost; 2001 Mar; 85(3):450-3. PubMed ID: 11307813
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  • 18. Heterozygous variant fibrinogen γA289V (Kanazawa III) was confirmed as hypodysfibrinogenemia by plasma and recombinant fibrinogens.
    Kaido T, Yoda M, Kamijo T, Taira C, Higuchi Y, Okumura N.
    Int J Lab Hematol; 2020 Apr; 42(2):190-197. PubMed ID: 31957968
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  • 19. Recombinant γY278H Fibrinogen Showed Normal Secretion from CHO Cells, but a Corresponding Heterozygous Patient Showed Hypofibrinogenemia.
    Kamijo T, Kaido T, Yoda M, Arai S, Yamauchi K, Okumura N.
    Int J Mol Sci; 2021 May 14; 22(10):. PubMed ID: 34069309
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  • 20. [Role of fibrinogen Bbeta-chain D-region 454-458 residues for assembly and secretion of intact fibrinogen].
    Terasawa F, Takezawa Y, Hirota-Kawadobora M, Okumura N.
    Rinsho Byori; 2011 Aug 14; 59(8):741-8. PubMed ID: 21942083
    [Abstract] [Full Text] [Related]

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