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Volumn 89, Issue 6, 2004, Pages 761-762

Rescue of activated protein C-resistance phenotype by cis-acting factor V Gly2032Asp mutation

Author keywords

Activated protein C; Factor V Leiden; Mutation

Indexed keywords

ACTIVATED PROTEIN C; ASPARAGINE; BLOOD CLOTTING FACTOR 5; CIS ACTING ELEMENT; GLYCINE;

EID: 3042571425     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (4)

References (10)
  • 3
    • 0029900150 scopus 로고    scopus 로고
    • Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency
    • Zehnder JL, Jain M. Recurrent thrombosis due to compound heterozygosity for factor V Leiden and factor V deficiency. Blood Coagul Fibrinolysis 1996;7:361-2.
    • (1996) Blood Coagul Fibrinolysis , vol.7 , pp. 361-362
    • Zehnder, J.L.1    Jain, M.2
  • 4
    • 0030698229 scopus 로고    scopus 로고
    • Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V
    • Castaman G, Lunghi B, Missiaglia E, Bernardi F, Rodeghiero F. Phenotypic homozygous activated protein C resistance associated with compound heterozygosity for Arg506Gln (factor V Leiden) and His1299Arg substitutions in factor V. Br J Haematol 1997;99:257-61.
    • (1997) Br J Haematol , vol.99 , pp. 257-261
    • Castaman, G.1    Lunghi, B.2    Missiaglia, E.3    Bernardi, F.4    Rodeghiero, F.5
  • 5
    • 0031058324 scopus 로고    scopus 로고
    • Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance
    • Guasch JF, Lensen RP, Bertina RM. Molecular characterization of a type I quantitative factor V deficiency in a thrombosis patient that is "pseudo homozygous" for activated protein C resistance. Thromb Haemost 1997;77:252-7.
    • (1997) Thromb Haemost , vol.77 , pp. 252-257
    • Guasch, J.F.1    Lensen, R.P.2    Bertina, R.M.3
  • 6
    • 0034796745 scopus 로고    scopus 로고
    • Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency
    • van Wijk R, Montefusco MC, Duga S, Asselta R, van Solinge W, Malcovati M, et al. Coexistence of a novel homozygous nonsense mutation in exon 13 of the factor V gene with the homozygous Leiden mutation in two unrelated patients with severe factor V deficiency. Br J Haematol 2001;114:871-4.
    • (2001) Br J Haematol , vol.114 , pp. 871-874
    • Van Wijk, R.1    Montefusco, M.C.2    Duga, S.3    Asselta, R.4    Van Solinge, W.5    Malcovati, M.6
  • 7
  • 8
    • 0032467348 scopus 로고    scopus 로고
    • Homology models of the C domains of blood coagulation factors V and VIII: A proposed membrane binding mode for FV and FVIII C2 domains
    • Pellequer JL, Gale AJ, Griffin JH, Getzoff ED. Homology models of the C domains of blood coagulation factors V and VIII: a proposed membrane binding mode for FV and FVIII C2 domains. Blood Cells Mol Dis 1998;24:448-61.
    • (1998) Blood Cells Mol Dis , vol.24 , pp. 448-461
    • Pellequer, J.L.1    Gale, A.J.2    Griffin, J.H.3    Getzoff, E.D.4
  • 9
    • 0029865410 scopus 로고    scopus 로고
    • Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies
    • Becker J, Schwaab R, Moller-Taube A, Schwaab U, Schmidt W, Brackmann HH, et al. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: family studies indicate a mutation type-dependent sex ratio of mutation frequencies. Am J Hum Genet 1996;58:657-70.
    • (1996) Am J Hum Genet , vol.58 , pp. 657-670
    • Becker, J.1    Schwaab, R.2    Moller-Taube, A.3    Schwaab, U.4    Schmidt, W.5    Brackmann, H.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.