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Journal Abstract Search

343 related items for PubMed ID: 16195396

  • 1. Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.
    Vu D, Di Sanza C, Caille D, de Moerloose P, Scheib H, Meda P, Neerman-Arbez M.
    Hum Mol Genet; 2005 Nov 01; 14(21):3271-80. PubMed ID: 16195396
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  • 2. Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants.
    Vu D, Di Sanza C, Neerman-Arbez M.
    Haematologica; 2008 Feb 01; 93(2):224-31. PubMed ID: 18223281
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  • 3. Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations.
    Neerman-Arbez M, de Moerloose P.
    Hum Mutat; 2007 Jun 01; 28(6):540-53. PubMed ID: 17295221
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  • 4. Congenital hypofibrinogenemia: characterization of two missense mutations affecting fibrinogen assembly and secretion.
    Platè M, Asselta R, Spena S, Spreafico M, Fagoonee S, Peyvandi F, Tenchini ML, Duga S.
    Blood Cells Mol Dis; 2008 Jun 01; 41(3):292-7. PubMed ID: 18676163
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  • 5. 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 01; 42(9):e57. PubMed ID: 16141000
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  • 8. Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients.
    Abdel Wahab M, de Moerloose P, Fish RJ, Neerman-Arbez M.
    Blood Coagul Fibrinolysis; 2010 Mar 01; 21(2):164-7. PubMed ID: 20051841
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  • 9. Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation.
    Asselta R, Robusto M, Platé M, Santoro C, Peyvandi F, Duga S.
    Thromb Res; 2015 Jul 01; 136(1):168-74. PubMed ID: 26006300
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  • 10. 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 01; 95(6):931-5. PubMed ID: 16732370
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  • 11. [Fibrinogen beta chain gene mutation contributes to one congenital afibrinogenemia].
    Xu XC, Zhou RF, Wu JS, Fang Y, Wang XF, Zhai ZM, Wang HL.
    Zhonghua Xue Ye Xue Za Zhi; 2005 Mar 01; 26(3):137-9. PubMed ID: 15946523
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  • 12. A novel fibrinogen B beta chain frameshift mutation causes congenital afibrinogenaemia.
    Zhang J, Zhao X, Wang Z, Yu Z, Cao L, Zhang W, Bai X, Ruan C.
    Thromb Haemost; 2013 Jul 01; 110(1):76-82. PubMed ID: 23740095
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  • 17. FGB mutations leading to congenital quantitative fibrinogen deficiencies: an update and report of four novel mutations.
    Casini A, Lukowski S, Quintard VL, Crutu A, Zak M, Regazzoni S, de Moerloose P, Neerman-Arbez M.
    Thromb Res; 2014 May 01; 133(5):868-74. PubMed ID: 24560896
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  • 19. [Congenital afibrinogenemia caused by a novel insertion mutation in the FGB gene].
    Zhang J, Zhao XJ, Wang ZY, Yu ZQ, Cao LJ, Ma ZN, Zhang J, Zhang W, Bai X, Ruan CG.
    Zhonghua Xue Ye Xue Za Zhi; 2013 Sep 01; 34(9):751-6. PubMed ID: 24103871
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  • 20. Molecular characterization of the first missense mutation in the fibrinogen Aalpha-chain gene identified in a compound heterozygous afibrinogenemic patient.
    Platé M, Asselta R, Peyvandi F, Tenchini ML, Duga S.
    Biochim Biophys Acta; 2007 Jul 01; 1772(7):781-7. PubMed ID: 17531448
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