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Volumn 102, Issue 13, 2003, Pages 4413-4415

Congenital afibrinogenemia: Identification and expression of a missense mutation in FGB impairing fibrinogen secretion

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; FIBRINOGEN ALPHA; FIBRINOGEN BETA; UNCLASSIFIED DRUG;

EID: 0344305469     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2003-06-2141     Document Type: Article
Times cited : (39)

References (17)
  • 1
    • 0343603909 scopus 로고    scopus 로고
    • Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia
    • Lak M, Keihani M, Elahi F, Peyvandi F, Mannucci PM. Bleeding and thrombosis in 55 patients with inherited afibrinogenaemia. Br J Haematol. 1999;107:204-206.
    • (1999) Br J Haematol , vol.107 , pp. 204-206
    • Lak, M.1    Keihani, M.2    Elahi, F.3    Peyvandi, F.4    Mannucci, P.M.5
  • 2
    • 0003150144 scopus 로고
    • Ueber-faserstoffmangel im Blute bei einem Falle von Hämophilie
    • Rabe F, Salomon E. Ueber-faserstoffmangel im Blute bei einem Falle von Hämophilie. Arch Intern Med. 1920;95:2-14.
    • (1920) Arch Intern Med , vol.95 , pp. 2-14
    • Rabe, F.1    Salomon, E.2
  • 3
    • 0000751868 scopus 로고
    • Evolution and organization of the fibrinogen locus on chromosome 4: Gene duplication accompanied by transposition and inversion
    • Kant JA, Fornace AJ Jr, Saxe D, Simon MI, McBride OW, Crabtree GR. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion. Proc Natl Acad Sci U S A. 1985;82:2344-2348.
    • (1985) Proc Natl Acad Sci U S A , vol.82 , pp. 2344-2348
    • Kant, J.A.1    Fornace Jr., A.J.2    Saxe, D.3    Simon, M.I.4    McBride, O.W.5    Crabtree, G.R.6
  • 4
    • 0032924251 scopus 로고    scopus 로고
    • Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia
    • Neerman-Arbez M, Honsberger A, Antonarakis SE, Morris MA. Deletion of the fibrinogen [correction of fibrogen] alpha-chain gene (FGA) causes congenital afibrogenemia. J Clin Invest. 1999;103:215-218.
    • (1999) J Clin Invest , vol.103 , pp. 215-218
    • Neerman-Arbez, M.1    Honsberger, A.2    Antonarakis, S.E.3    Morris, M.A.4
  • 5
    • 0034912425 scopus 로고    scopus 로고
    • The molecular basis of inherited afibrinogenaemia
    • Neerman-Arbez M. The molecular basis of inherited afibrinogenaemia. Thromb Haemost. 2001;86:154-163.
    • (2001) Thromb Haemost , vol.86 , pp. 154-163
    • Neerman-Arbez, M.1
  • 6
    • 0034651759 scopus 로고    scopus 로고
    • Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion
    • Duga S, Asselta R, Santagostino E, et al. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood. 2000;95:1336-1341.
    • (2000) Blood , vol.95 , pp. 1336-1341
    • Duga, S.1    Asselta, R.2    Santagostino, E.3
  • 7
    • 0010180120 scopus 로고    scopus 로고
    • Involvement of fibrinogen Bbeta-chain gene in the pathogenesis of congenital afibrinogenemia
    • Duga S, Asselta R, Santagostino E, et al. Involvement of fibrinogen Bbeta-chain gene in the pathogenesis of congenital afibrinogenemia [abstract]. Thromb Haemost. 2001;86(suppl):P1108.
    • (2001) Thromb Haemost , vol.86 , Issue.SUPPL.
    • Duga, S.1    Asselta, R.2    Santagostino, E.3
  • 8
    • 0031612929 scopus 로고    scopus 로고
    • Recommendations for a nomenclature system for human gene mutations
    • Nomenclature Working Group
    • Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat. 1998;11:1-3.
    • (1998) Hum Mutat , vol.11 , pp. 1-3
    • Antonarakis, S.E.1
  • 9
    • 0036713664 scopus 로고    scopus 로고
    • Novel fibrinogen truncation with deletion of Bbeta chain residues 440-461 causes hypofibrinogenaemia
    • Homer VM, Brennan SO, Ockelford P, George PM. Novel fibrinogen truncation with deletion of Bbeta chain residues 440-461 causes hypofibrinogenaemia. Thromb Haemost. 2002;88:427-431.
    • (2002) Thromb Haemost , vol.88 , pp. 427-431
    • Homer, V.M.1    Brennan, S.O.2    Ockelford, P.3    George, P.M.4
  • 10
    • 0038542879 scopus 로고    scopus 로고
    • Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family
    • Neerman-Arbez M, Vu D, Abu-Libdeh D, Bouchardy I, Morris MA. Prenatal diagnosis for congenital afibrinogenemia caused by a novel nonsense mutation in the FGB gene in a Palestinian family. Blood. 2003;101:3492-3494.
    • (2003) Blood , vol.101 , pp. 3492-3494
    • Neerman-Arbez, M.1    Vu, D.2    Abu-Libdeh, D.3    Bouchardy, I.4    Morris, M.A.5
  • 11
    • 0035986777 scopus 로고    scopus 로고
    • Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bb-chain gene causing afibrinogenemia
    • Asselta R, Spena S, Duga S, et al. Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bb-chain gene causing afibrinogenemia. Haematologica. 2002;87:855-859.
    • (2002) Haematologica , vol.87 , pp. 855-859
    • Asselta, R.1    Spena, S.2    Duga, S.3
  • 12
    • 0034214836 scopus 로고    scopus 로고
    • Mutations in the fibrinogen Aalpha gene account for the majority of cases of congenital afibrinogenemia
    • Neerman-Arbez M, de Moerloose P, Bridel C, et al. Mutations in the fibrinogen Aalpha gene account for the majority of cases of congenital afibrinogenemia. Blood. 2000;96:149-152.
    • (2000) Blood , vol.96 , pp. 149-152
    • Neerman-Arbez, M.1    De Moerloose, P.2    Bridel, C.3
  • 13
    • 17744397106 scopus 로고    scopus 로고
    • Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: Novel truncating mutations in the FGA and FGG genes
    • Neerman-Arbez M, de Moerloose P, Honsberger A, et al. Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes. Hum Genet. 2001;108:237-240.
    • (2001) Hum Genet , vol.108 , pp. 237-240
    • Neerman-Arbez, M.1    De Moerloose, P.2    Honsberger, A.3
  • 14
    • 0032837376 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in health and disease
    • Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet. 1999;8:1893-1900.
    • (1999) Hum Mol Genet , vol.8 , pp. 1893-1900
    • Frischmeyer, P.A.1    Dietz, H.C.2
  • 15
    • 0033525169 scopus 로고    scopus 로고
    • A perfect message: RNA surveillance and nonsense-mediated decay
    • Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense-mediated decay. Cell. 1999;96:307-310.
    • (1999) Cell , vol.96 , pp. 307-310
    • Hentze, M.W.1    Kulozik, A.E.2
  • 16
    • 0036207384 scopus 로고    scopus 로고
    • Listening to silence and understanding nonsense: Exonic mutations that affect splicing
    • Cartegni L, Chew SL, Krainer AR. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet. 2002;3:285-298.
    • (2002) Nat Rev Genet , vol.3 , pp. 285-298
    • Cartegni, L.1    Chew, S.L.2    Krainer, A.R.3
  • 17
    • 0038690591 scopus 로고    scopus 로고
    • Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg→His (Fibrinogen Merivale)
    • Maghzal GJ, Brennan SO, Fellowes AP, Spearing R, George PM. Familial hypofibrinogenaemia associated with heterozygous substitution of a conserved arginine residue; Bbeta255 Arg→His (Fibrinogen Merivale). Biochim Biophys Acta. 2003;1645:146-151.
    • (2003) Biochim Biophys Acta , vol.1645 , pp. 146-151
    • Maghzal, G.J.1    Brennan, S.O.2    Fellowes, A.P.3    Spearing, R.4    George, P.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.