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Volumn 94, Issue 5, 2005, Pages 965-968

Fibrinogen Saint-Germain II: Hypofibrinogenemia due to heterozygous γ N345S mutation

Author keywords

Hypofibrinogenemia; Thrombosis risk factors

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; BLOOD CLOTTING FACTOR 5 LEIDEN; FIBRINOGEN; GLUTAMINE; GLYCINE; MUTANT PROTEIN; PROTHROMBIN; SERINE;

EID: 27844474755     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH05-05-0334     Document Type: Article
Times cited : (13)

References (25)
  • 1
    • 0034964447 scopus 로고    scopus 로고
    • The structure and biological features ofibrinogen and fibrin
    • Nieuwenhuizen W, Mosesson MW de Maat MPM, editors. Fibrinogen
    • Mosesson MW, Siebenlist KR, Meh DA. The structure and biological features ofibrinogen and fibrin. In: Nieuwenhuizen W, Mosesson MW de Maat MPM, editors. Fibrinogen. Ann NY Acad Sci 2001; 936: 11-30.
    • (2001) Ann. NY Acad. Sci. , vol.936 , pp. 11-30
    • Mosesson, M.W.1    Siebenlist, K.R.2    Meh, D.A.3
  • 2
    • 0141450410 scopus 로고    scopus 로고
    • Fibrinogen gamma chain functions
    • Mosesson MW. Fibrinogen gamma chain functions. J Thromb Haemost 2003; 1: 231-8.
    • (2003) J. Thromb. Haemost. , vol.1 , pp. 231-238
    • Mosesson, M.W.1
  • 3
    • 33645744323 scopus 로고    scopus 로고
    • Hereditary Fibrinogen Abnormalities
    • Beutler E, Lichtman MA, Coller BS, Kipps TJ, Seligsohn U, editors. New York: McGraw-Hill
    • Mosesson MW. Hereditary Fibrinogen Abnormalities. In: Beutler E, Lichtman MA, Coller BS, Kipps TJ, Seligsohn U, editors. Williams Hematology. New York: McGraw-Hill. 2005.
    • (2005) Williams Hematology
    • Mosesson, M.W.1
  • 4
    • 0037249459 scopus 로고    scopus 로고
    • Antithrombin I. Inhibition of thrombin generation in plasma by fibrin formation
    • Mosesson MW. Antithrombin I. Inhibition of thrombin generation in plasma by fibrin formation. Thromb Haemost 2003; 89: 9-12.
    • (2003) Thromb. Haemost. , vol.89 , pp. 9-12
    • Mosesson, M.W.1
  • 5
    • 33745551242 scopus 로고
    • Rapid physiological coagulation method in determination of fibrinogen
    • Clauss A. Rapid physiological coagulation method in determination of fibrinogen. Acta Haematol 1957; 17: 237-6.
    • (1957) Acta Haematol. , vol.17 , pp. 237-246
    • Clauss, A.1
  • 6
    • 0028314865 scopus 로고
    • Mutation in blood coagulation factor V associated with resistance to activated protein C
    • Bertina RM, Koeleman PC, Koster T et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-7.
    • (1994) Nature , vol.369 , pp. 64-67
    • Bertina, R.M.1    Koeleman, P.C.2    Koster, T.3
  • 7
    • 0031461781 scopus 로고    scopus 로고
    • An improved method for the detection of the G20210A transition in the prothrombin gene
    • Raoul M, Mathonnet F, Peltier JY et al. An improved method for the detection of the G20210A transition in the prothrombin gene. Thromb Res 1997; 88: 441-3.
    • (1997) Thromb. Res. , vol.88 , pp. 441-443
    • Raoul, M.1    Mathonnet, F.2    Peltier, J.Y.3
  • 8
    • 0013947566 scopus 로고
    • The preparation and properties of human fibrinogen of relatively high solubility
    • Mosesson MW, Sherry S. The preparation and properties of human fibrinogen of relatively high solubility. Biochemistry 1966; 5: 2829-35.
    • (1966) Biochemistry , vol.5 , pp. 2829-2835
    • Mosesson, M.W.1    Sherry, S.2
  • 9
    • 0030845363 scopus 로고    scopus 로고
    • Electrospray ionisation analysis of human fibrinogen
    • Brennan SO, Electrospray ionisation analysis of human fibrinogen Thromb Haemost 1997; 78:1055-8.
    • (1997) Thromb. Haemost. , vol.78 , pp. 1055-1058
    • Brennan, S.O.1
  • 11
    • 0037395275 scopus 로고    scopus 로고
    • New molecular defects in the gamma subdomain of fibrinogen D-domain in four cases of (hypo)dysfibrinogenemia: Fibrinogen variants Hannover VI, Homburg VII, Stuttgart and Suhl
    • Meyer M, Franke K, Richter W et al. New molecular defects in the gamma subdomain of fibrinogen D-domain in four cases of (hypo)dysfibrinogenemia: fibrinogen variants Hannover VI, Homburg VII, Stuttgart and Suhl. Thromb Haemost 2003; 89: 637-46.
    • (2003) Thromb. Haemost. , vol.89 , pp. 637-646
    • Meyer, M.1    Franke, K.2    Richter, W.3
  • 12
    • 0033882702 scopus 로고    scopus 로고
    • Fibrinogen brescia: Hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly - >Arg mutation
    • Brennan SO, Wyatt J, Medicina D et al. Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly - >Arg mutation. Am J Pathol 2000; 157: 189-96.
    • (2000) Am. J. Pathol. , vol.157 , pp. 189-196
    • Brennan, S.O.1    Wyatt, J.2    Medicina, D.3
  • 13
    • 0036707542 scopus 로고    scopus 로고
    • Novel fibrinogen gamma375 Arg - >Trp mutation (fibrinogen Aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia
    • Brennan SO, Maghzal G, Shneider BL et al. Novel fibrinogen gamma375 Arg - >Trp mutation (fibrinogen Aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia. Hepatology 2002; 36: 652-8.
    • (2002) Hepatology , vol.36 , pp. 652-658
    • Brennan, S.O.1    Maghzal, G.2    Shneider, B.L.3
  • 14
    • 0035905578 scopus 로고    scopus 로고
    • Gamma371 Thr - >Ile substitution in the fibrinogen gamma D domain causes hypofibrinogenaemia
    • Brennan SO, Wyatt JM, Fellowes AP et al. Gamma371 Thr - >Ile substitution in the fibrinogen gamma D domain causes hypofibrinogenaemia. Biochim Biophys Acta 2001; 1550: 183-8
    • (2001) Biochim. Biophys. Acta , vol.1550 , pp. 183-188
    • Brennan, S.O.1    Wyatt, J.M.2    Fellowes, A.P.3
  • 15
    • 0035080856 scopus 로고    scopus 로고
    • Hypofibrinogenemia due to novel 316 Asp - >Tyr substitution in the fibrinogen Bbeta chain
    • Brennan SO, Wyatt JM, May S et al. Hypofibrinogenemia due to novel 316 Asp - >Tyr substitution in the fibrinogen Bbeta chain. Thromb Haemost 2001; 85: 450-3.
    • (2001) Thromb. Haemost. , vol.85 , pp. 450-453
    • Brennan, S.O.1    Wyatt, J.M.2    May, S.3
  • 16
    • 0034161362 scopus 로고    scopus 로고
    • Hypofibrinogenemia in an individual with 2 coding (gamma82 A - >G and Bbeta235 P - >L) and 2 noncoding mutations
    • Brennan SO, Fellowes AP, Faed JM et al. Hypofibrinogenemia in an individual with 2 coding (gamma82 A - >G and Bbeta235 P - >L) and 2 noncoding mutations. Blood 2000; 95: 1709-13
    • (2000) Blood , vol.95 , pp. 1709-1713
    • Brennan, S.O.1    Fellowes, A.P.2    Faed, J.M.3
  • 17
    • 0033828227 scopus 로고    scopus 로고
    • Hypofibrinogenaemia with compound heterozygosity for two gamma chain mutations - Gamma 82 Ala - >Gly and an intron two GT->AT splice site mutation
    • Wyatt J, Brennan SO, May S et al. Hypofibrinogenaemia with compound heterozygosity for two gamma chain mutations - gamma 82 Ala - >Gly and an intron two GT->AT splice site mutation. Thromb Haemost 2000;84:449-52
    • (2000) Thromb. Haemost. , vol.84 , pp. 449-452
    • Wyatt, J.1    Brennan, S.O.2    May, S.3
  • 18
    • 41849122968 scopus 로고
    • Nécrose ischémique bilatérale dans un cas de grande hypofibrinogénémie congénitale
    • Caen J, Faur Y, Inceman S et al. Nécrose ischémique bilatérale dans un cas de grande hypofibrinogénémie congénitale. Nouv Rev Fr Hématol 1964; 4: 321-6.
    • (1964) Nouv. Rev. Fr. Hématol. , vol.4 , pp. 321-326
    • Caen, J.1    Faur, Y.2    Inceman, S.3
  • 19
    • 0002305482 scopus 로고
    • Thrombose massive des vaisseaux d'un membre an cours d'une hypofibrinémie congénitale
    • Marchal G, Duhamel G, Samama M et al. Thrombose massive des vaisseaux d'un membre an cours d'une hypofibrinémie congénitale. Hémostase 1964; 4: 81-9.
    • (1964) Hémostase , vol.4 , pp. 81-89
    • Marchal, G.1    Duhamel, G.2    Samama, M.3
  • 21
    • 0013873787 scopus 로고
    • Fatal pulmonary embolism in congenital fibrinopenia
    • Ingram GI, McBrien DJ, Spencer H. Fatal pulmonary embolism in congenital fibrinopenia. Acta Haematol 1966; 35: 56-62.
    • (1966) Acta Haematol. , vol.35 , pp. 56-62
    • Ingram, G.I.1    McBrien, D.J.2    Spencer, H.3
  • 22
    • 0029166576 scopus 로고
    • Severe hypofibrinogenemia associated with bilateral ischemic necrosis of toes and fingers
    • Chafa O, Chellali T, Sternberg C et al. Severe hypofibrinogenemia associated with bilateral ischemic necrosis of toes and fingers. Blood Coagul Fibrinolysis 1995;6:549-52.
    • (1995) Blood Coagul. Fibrinolysis , vol.6 , pp. 549-552
    • Chafa, O.1    Chellali, T.2    Sternberg, C.3
  • 24
    • 0033623697 scopus 로고    scopus 로고
    • Co-existing dysfibrinogenemia (gammaR275C) and factor V Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids)
    • Siebenlist KR, Mosesson MW, Meh DA et al. Co-existing dysfibrinogenemia (gammaR275C) and factor V Leiden deficiency associated with thromboembolic disease (fibrinogen Cedar Rapids). Blood Coagul Fibrinolysis 2000; 11: 293-304.
    • (2000) Blood Coagul. Fibrinolysis , vol.11 , pp. 293-304
    • Siebenlist, K.R.1    Mosesson, M.W.2    Meh, D.A.3
  • 25
    • 0028877613 scopus 로고
    • Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen
    • Haverkate F, Samama M. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. Thromb Haemost 1995; 73:151-61.
    • (1995) Thromb. Haemost. , vol.73 , pp. 151-161
    • Haverkate, F.1    Samama, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.