메뉴 건너뛰기




Volumn 88, Issue 3, 1996, Pages 877-880

Venous thromboembolism associated with double heterozygosity for R506Q mutation of factor V and for T298M mutation of protein C in a large family of a previously described homozygous protein C-deficient newborn with massive thrombosis

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 5; PROTEIN C;

EID: 0029743426     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v88.3.877.877     Document Type: Article
Times cited : (66)

References (28)
  • 2
    • 0021086761 scopus 로고
    • Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura fulminans in a newborn infant
    • Branson HE, Katz HJ, Marble R, Griffin JH: Inherited protein C deficiency and coumarin-responsive chronic relapsing purpura fulminans in a newborn infant. Lancet 2:1165, 1983
    • (1983) Lancet , vol.2 , pp. 1165
    • Branson, H.E.1    Katz, H.J.2    Marble, R.3    Griffin, J.H.4
  • 4
    • 0023233223 scopus 로고
    • Absence of thrombosis in subjects with heterozygous protein C deficiency
    • Miletich J, Sherman L, Broze G: Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med 317:991, 1987
    • (1987) N Engl J Med , vol.317 , pp. 991
    • Miletich, J.1    Sherman, L.2    Broze, G.3
  • 5
    • 0024563172 scopus 로고
    • The relative frequency of hereditary thrombotic disorders among 107 patients with thrombophilia in Israel
    • Ben-Tal O, Zivelin A, Seligsohn U: The relative frequency of hereditary thrombotic disorders among 107 patients with thrombophilia in Israel. Thromb Haemost 61:50, 1989
    • (1989) Thromb Haemost , vol.61 , pp. 50
    • Ben-Tal, O.1    Zivelin, A.2    Seligsohn, U.3
  • 6
    • 0027446268 scopus 로고
    • Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C
    • Dahlbäck B, Carlsson M, Svensson PJ: Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: Prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 90:1004, 1993
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 1004
    • Dahlbäck, B.1    Carlsson, M.2    Svensson, P.J.3
  • 10
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF: A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215, 1988
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 11
    • 0027999556 scopus 로고
    • Brief report: Variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg → Gln mutation in the gene for factor V
    • Greengard JS, Eichinger S, Griffin JH, Bauer KA: Brief report: Variability of thrombosis among homozygous siblings with resistance to activated protein C due to an Arg → Gln mutation in the gene for factor V. N Engl J Med 331:1159, 1994
    • (1994) N Engl J Med , vol.331 , pp. 1159
    • Greengard, J.S.1    Eichinger, S.2    Griffin, J.H.3    Bauer, K.A.4
  • 13
    • 0027428481 scopus 로고
    • Anticoagulant protein C pathway is defective in majority of thrombophilic patients
    • Griffin JH, Evatt B, Wideman C, Fernandez JA: Anticoagulant protein C pathway is defective in majority of thrombophilic patients. Blood 82:1989, 1993
    • (1993) Blood , vol.82 , pp. 1989
    • Griffin, J.H.1    Evatt, B.2    Wideman, C.3    Fernandez, J.A.4
  • 14
    • 0027520285 scopus 로고
    • Venous thrombosis due to poor anticoagulant response to activated protein C; Leiden Thrombophilia Study
    • Koster T, Rosendaal FR, de Ronde H, Briet E, Vanden-broucke JP, Bertina RM: Venous thrombosis due to poor anticoagulant response to activated protein C; Leiden Thrombophilia Study. Lancet 342:1503, 1993
    • (1993) Lancet , vol.342 , pp. 1503
    • Koster, T.1    Rosendaal, F.R.2    De Ronde, H.3    Briet, E.4    Vanden-broucke, J.P.5    Bertina, R.M.6
  • 15
    • 0028098210 scopus 로고
    • Resistance to activated protein C as a basis for venous thrombosis
    • Svensson PJ, Dahlbäck B: Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 330:517, 1994
    • (1994) N Engl J Med , vol.330 , pp. 517
    • Svensson, P.J.1    Dahlbäck, B.2
  • 16
    • 0028207944 scopus 로고
    • Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis
    • Tomczak JA, Ando RA, Sobel HG, Bovill EG, Long GL: Genetic analysis of a large kindred exhibiting type I protein C deficiency and associated thrombosis. Thromb Res 74:243, 1994
    • (1994) Thromb Res , vol.74 , pp. 243
    • Tomczak, J.A.1    Ando, R.A.2    Sobel, H.G.3    Bovill, E.G.4    Long, G.L.5
  • 20
    • 0028000665 scopus 로고
    • Activated protein C resistance as an additional risk factor for thrombosis in protein C deficient families
    • Koeleman BPC, Reitsma PH, Allaart CF, Bertina RM: Activated protein C resistance as an additional risk factor for thrombosis in protein C deficient families. Blood 84:1031, 1994
    • (1994) Blood , vol.84 , pp. 1031
    • Koeleman, B.P.C.1    Reitsma, P.H.2    Allaart, C.F.3    Bertina, R.M.4
  • 21
    • 0028910906 scopus 로고
    • Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men
    • Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP: Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med 332:912, 1995
    • (1995) N Engl J Med , vol.332 , pp. 912
    • Ridker, P.M.1    Hennekens, C.H.2    Lindpaintner, K.3    Stampfer, M.J.4    Eisenberg, P.R.5    Miletich, J.P.6
  • 23
    • 0029050714 scopus 로고
    • Molecular abnormalities responsible for protein C and protein S deficiencies. Incidence of activated protein C resistance due to the Arg506 Gln mutation in factor V in 113 unrelated symptomatic protein C deficient patients
    • Gandrille S, Greengard JS, Alhenc-Gelas M, Juhan-Vague I, Abgrall JF, Jude B, Griffin JH, Aiach M and the French network on behalf of INSERM: Molecular abnormalities responsible for protein C and protein S deficiencies. Incidence of activated protein C resistance due to the Arg506 Gln mutation in factor V in 113 unrelated symptomatic protein C deficient patients. Blood 86:219, 1995
    • (1995) Blood , vol.86 , pp. 219
    • Gandrille, S.1    Greengard, J.S.2    Alhenc-Gelas, M.3    Juhan-Vague, I.4    Abgrall, J.F.5    Jude, B.6    Griffin, J.H.7    Aiach, M.8
  • 24
    • 0028323166 scopus 로고
    • Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: Patterns revealed by three-dimensional molecular modelling of mutations of the protease domain
    • Greengard JS, Fisher CL, Villoutreix B, Griffin JH: Structural basis for type I and type II deficiencies of antithrombotic plasma protein C: Patterns revealed by three-dimensional molecular modelling of mutations of the protease domain. Proteins 18:367, 1994
    • (1994) Proteins , vol.18 , pp. 367
    • Greengard, J.S.1    Fisher, C.L.2    Villoutreix, B.3    Griffin, J.H.4
  • 25
    • 0028305045 scopus 로고
    • Blood coagulation factor Va abnormality associated with resistance to activated protein C in venous thrombophilia
    • Sun X, Evatt B, Griffin JH: Blood coagulation factor Va abnormality associated with resistance to activated protein C in venous thrombophilia. Blood 83:3120, 1994
    • (1994) Blood , vol.83 , pp. 3120
    • Sun, X.1    Evatt, B.2    Griffin, J.H.3
  • 26
    • 0029048665 scopus 로고
    • Activated protein C resistance: Molecular mechanisms based on studies using purified Gln 506 factor V
    • Heeb MJ, Kojima Y, Greengard J, Griffin JH: Activated protein C resistance: Molecular mechanisms based on studies using purified Gln 506 factor V. Blood 85:3405, 1995
    • (1995) Blood , vol.85 , pp. 3405
    • Heeb, M.J.1    Kojima, Y.2    Greengard, J.3    Griffin, J.H.4
  • 27
    • 0028939318 scopus 로고
    • Characterization of the molecular defect in factor V R506Q
    • Kalafatis M, Bertina RM, Rand MD, Mann KG: Characterization of the molecular defect in factor V R506Q. J Biol Chem 270:4053, 1995
    • (1995) J Biol Chem , vol.270 , pp. 4053
    • Kalafatis, M.1    Bertina, R.M.2    Rand, M.D.3    Mann, K.G.4
  • 28
    • 0028110027 scopus 로고
    • The mechanism of inactivation of human factor V and human factor Va by activated protein C
    • Kalafatis M, Rand MD, Mann KG: The mechanism of inactivation of human factor V and human factor Va by activated protein C. J Biol Chem 269:31869, 1994
    • (1994) J Biol Chem , vol.269 , pp. 31869
    • Kalafatis, M.1    Rand, M.D.2    Mann, K.G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.