메뉴 건너뛰기




Volumn 95, Issue 5, 2000, Pages 1709-1713

Hypofibrinogenemia in an individual with 2 coding (γ82 A → G and Bβ235 P → L) and 2 noncoding mutations

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FIBRINOGEN;

EID: 0034161362     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v95.5.1709.005k04_1709_1713     Document Type: Article
Times cited : (54)

References (22)
  • 1
    • 77957222558 scopus 로고
    • Fibrinogen, fibrin and factor XIII
    • Zwaal RFA, Hemker HC, eds. Amsterdam, The Netherlands: Elsevier Science Publishers B.V. (Biomedical Division)
    • Henschen AH, McDonagh J, Fibrinogen, fibrin and factor XIII. In: Zwaal RFA, Hemker HC, eds. Blood Coagulation. Vol 13. Amsterdam, The Netherlands: Elsevier Science Publishers B.V. (Biomedical Division). 1986:171.
    • (1986) Blood Coagulation , vol.13 , pp. 171
    • Henschen, A.H.1    McDonagh, J.2
  • 2
    • 0002946019 scopus 로고
    • The molecular biology of fibrin
    • Stamatoyannopoulos G. Nienhuis AW, Majerus PW, Varmus H, eds Philadelphia. PA: W.B. Saunders Company
    • Doolittle RF The molecular biology of fibrin. In: Stamatoyannopoulos G. Nienhuis AW, Majerus PW, Varmus H, eds The Molecular Basis of Blood Diseases. Philadelphia. PA: W.B. Saunders Company. 1994:701.
    • (1994) The Molecular Basis of Blood Diseases , pp. 701
    • Doolittle, R.F.1
  • 3
    • 0027379584 scopus 로고
    • Carboxyl-terminal portions of the α chains of fibrinogen and fibrin: Localization by electron microscopy and the effects of isolated αC fragments on polymerization
    • Veklich YI, Gorkun OV, Medved LV, Nieuwenhuizen W, Weisel JW. Carboxyl-terminal portions of the α chains of fibrinogen and fibrin: localization by electron microscopy and the effects of isolated αC fragments on polymerization. J Biol Chem. 1993;268:13,577.
    • (1993) J Biol Chem. , vol.268 , pp. 13577
    • Veklich, Y.I.1    Gorkun, O.V.2    Medved, L.V.3    Nieuwenhuizen, W.4    Weisel, J.W.5
  • 4
    • 0031903388 scopus 로고    scopus 로고
    • A three-dimensional consideration of variant human fibrinogens
    • Everse SJ, Spraggon G, Doolittle RF. A three-dimensional consideration of variant human fibrinogens. Thromb Haemost. 1998;80:1.
    • (1998) Thromb Haemost. , vol.80 , pp. 1
    • Everse, S.J.1    Spraggon, G.2    Doolittle, R.F.3
  • 6
    • 0030931417 scopus 로고    scopus 로고
    • Fibrinogen Otago: A major α chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage
    • Ridgway HJ, Brennan SO, Faed JM, George PM. Fibrinogen Otago: a major α chain truncation associated with severe hypofibrinogenaemia and recurrent miscarriage. Br J Haematol. 1997;98:632.
    • (1997) Br J Haematol. , vol.98 , pp. 632
    • Ridgway, H.J.1    Brennan, S.O.2    Faed, J.M.3    George, P.M.4
  • 7
    • 0031059823 scopus 로고    scopus 로고
    • Two variants of quantitative reverse transcriptase PCR used to show differential expression of α-, β-and γ-fibrinogen genes in rat liver lobes
    • Zhang JL, Desai M, Ozanne SE, Doherty C, Hales CN, Byrne CD. Two variants of quantitative reverse transcriptase PCR used to show differential expression of α-, β-and γ-fibrinogen genes in rat liver lobes. Biochem J. 1997;321 769.
    • (1997) Biochem J. , vol.321 , pp. 769
    • Zhang, J.L.1    Desai, M.2    Ozanne, S.E.3    Doherty, C.4    Hales, C.N.5    Byrne, C.D.6
  • 8
    • 0028881825 scopus 로고
    • Aberrant hepalic processing causes removal of activation peptide and primary polymerisation site from fibrinogen canterbury (Aα20 Val→-Asp)
    • Brennan SO, Hammonds B, George PM. Aberrant hepalic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (Aα20 Val→-Asp). J Clin Invest. 1995;96:2854.
    • (1995) J Clin Invest. , vol.96 , pp. 2854
    • Brennan, S.O.1    Hammonds, B.2    George, P.M.3
  • 9
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during the assembly of the head of bacteriophage T4
    • Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 1970;227:680.
    • (1970) Nature , vol.227 , pp. 680
    • Laemmli, U.K.1
  • 10
    • 0030845363 scopus 로고    scopus 로고
    • Electrospray ionisation analysis of human fibrinogen
    • Brennan SO. Electrospray ionisation analysis of human fibrinogen. Thromb Haemost. 1997;78:1055.
    • (1997) Thromb Haemost. , vol.78 , pp. 1055
    • Brennan, S.O.1
  • 11
    • 0031849269 scopus 로고    scopus 로고
    • Oligosaccharide configuration of fibrinogen Kaiserslautern: Electrospray ionisation analysis of intact γ chains
    • Brennan SO, Loreth RM, George PM. Oligosaccharide configuration of fibrinogen Kaiserslautern: electrospray ionisation analysis of intact γ chains. Thromb Haemost. 1998;80:263.
    • (1998) Thromb Haemost. , vol.80 , pp. 263
    • Brennan, S.O.1    Loreth, R.M.2    George, P.M.3
  • 12
    • 0023807680 scopus 로고
    • A simple method for DNA purification from peripheral blood
    • Ciulla TA, Sklar RM, Hauser SL. A simple method for DNA purification from peripheral blood Anal Biochem. 1988;174:485.
    • (1988) Anal Biochem. , vol.174 , pp. 485
    • Ciulla, T.A.1    Sklar, R.M.2    Hauser, S.L.3
  • 13
    • 0023850178 scopus 로고
    • Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase
    • Saiki RK, Gelfand DH, Stoffel S, et al. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988;239:487.
    • (1988) Science , vol.239 , pp. 487
    • Saiki, R.K.1    Gelfand, D.H.2    Stoffel, S.3
  • 14
    • 0026764808 scopus 로고
    • Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene
    • Ferrie RM, Schwarz MJ, Robertson NH, et al. Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene. Am J Hum Genet. 1992;51:251.
    • (1992) Am J Hum Genet. , vol.51 , pp. 251
    • Ferrie, R.M.1    Schwarz, M.J.2    Robertson, N.H.3
  • 15
    • 0023200050 scopus 로고
    • Genetic and cultural inheritance of plasma fibrinogen concentration
    • Hamsten A, Iselius L, de Faire U, Blombäck M. Genetic and cultural inheritance of plasma fibrinogen concentration. Lancet. 1987;2:988.
    • (1987) Lancet , vol.2 , pp. 988
    • Hamsten, A.1    Iselius, L.2    De Faire, U.3    Blombäck, M.4
  • 16
    • 9044240867 scopus 로고    scopus 로고
    • β fibrinogen gene polymorphisms are associated with plasma fibrinogen and coronary artery disease in patients with myocardial infarction: The ECTIM Study. Etude cas-temoins sur l'infarctus du myocarde
    • Behague I, Poirier O, Nicaud V, et al. β fibrinogen gene polymorphisms are associated with plasma fibrinogen and coronary artery disease in patients with myocardial infarction: the ECTIM Study. Etude Cas-Temoins sur l'Infarctus du Myocarde. Circulation. 1996;93:440.
    • (1996) Circulation , vol.93 , pp. 440
    • Behague, I.1    Poirier, O.2    Nicaud, V.3
  • 17
    • 0031444779 scopus 로고    scopus 로고
    • Bc/I polymorphism in the tibrinogen β-chain gene is associated with the risk of familial myocardial infarction by increasing plasma fibrinogen levels: A case-control study in a sample of GISSI-2 patients
    • Zito F, Di Castelnuovo A, Amore C, D'Orazio A, Donati MB, Iacoviello L. Bc/I polymorphism in the tibrinogen β-chain gene is associated with the risk of familial myocardial infarction by increasing plasma fibrinogen levels: a case-control study in a sample of GISSI-2 patients. Arterioscler Thromb Vasc Biol. 1997;17:3489.
    • (1997) Arterioscler Thromb Vasc Biol. , vol.17 , pp. 3489
    • Zito, F.1    Di Castelnuovo, A.2    Amore, C.3    D'Orazio, A.4    Donati, M.B.5    Iacoviello, L.6
  • 18
    • 0031919199 scopus 로고    scopus 로고
    • β-fibrinogen gene polymorphism (C148→T) is associated with carolid atherosclerosis: Results of the Austrian stroke prevention study
    • Schmidt H, Schmidt R, Niederkorn K, et al. β-fibrinogen gene polymorphism (C148→T) is associated with carolid atherosclerosis: results of the Austrian stroke prevention study. Arterioscler Thromb Vasc Biol. 1998;18:487.
    • (1998) Arterioscler Thromb Vasc Biol. , vol.18 , pp. 487
    • Schmidt, H.1    Schmidt, R.2    Niederkorn, K.3
  • 19
    • 0031836563 scopus 로고    scopus 로고
    • 455G/A polymorphism of the β-fibrinogen gene is associated with the progression of coronary atherosclerosis in symptomatic men: Proposed role for an acute-phase reaction pattern of fibrinogen. REGRESS group
    • de Maat MP, Kastelein JJ, Jukema JW, et al. - 455G/A polymorphism of the β-fibrinogen gene is associated with the progression of coronary atherosclerosis in symptomatic men: proposed role for an acute-phase reaction pattern of fibrinogen. REGRESS group. Arterioscler Thromb Vasc Biol. 1998;18:265.
    • (1998) Arterioscler Thromb Vasc Biol. , vol.18 , pp. 265
    • De Maat, M.P.1    Kastelein, J.J.2    Jukema, J.W.3
  • 21
    • 0020050314 scopus 로고
    • A catalogue of splice junction sequences
    • Mount SM. A catalogue of splice junction sequences. Nucleic Acids Res. 1982;10:459.
    • (1982) Nucleic Acids Res. , vol.10 , pp. 459
    • Mount, S.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.