메뉴 건너뛰기




Volumn 24, Issue 2, 2013, Pages 213-215

Recurrent ischemic cerebrovascular events in a patient with type i antithrombin deficiency caused by 9788 G>A splice site mutation: A case report

Author keywords

antithrombin deficiency; cerebrovascular ischemic events; SERPINC1 mutation; thromboembolism

Indexed keywords

ACETYLSALICYLIC ACID; ENOXAPARIN; NUCLEOTIDE; WARFARIN;

EID: 84873363156     PISSN: 09575235     EISSN: 14735733     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32835b2467     Document Type: Article
Times cited : (8)

References (16)
  • 1
    • 55949104988 scopus 로고    scopus 로고
    • Inherited antithrombin deficiency: A review
    • Patnaik MM, Moll S. Inherited antithrombin deficiency: A review. Haemophilia 2008; 14:1229-1239
    • (2008) Haemophilia , vol.14 , pp. 1229-1239
    • Patnaik, M.M.1    Moll, S.2
  • 2
    • 33744467056 scopus 로고    scopus 로고
    • The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S
    • De Stefano V, Simioni P, Rossi E, Tormene D, Za T, Pagnan A, Leone G. The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S. Haematologica 2006; 91:695-698
    • (2006) Haematologica , vol.91 , pp. 695-698
    • De Stefano, V.1    Simioni, P.2    Rossi, E.3    Tormene, D.4    Za, T.5    Pagnan, A.6    Leone, G.7
  • 3
    • 0027469085 scopus 로고
    • Ischemic stroke due to deficiency of coagulation inhibitors report of 10 young adults
    • Martinez HR, Rangel-Guerra RA, Marfil LJ. Ischemic stroke due to deficiency of coagulation inhibitors. Report of 10 young adults. Stroke 1993; 24:19-25
    • (1993) Stroke , vol.24 , pp. 19-25
    • Martinez, H.R.1    Rangel-Guerra, R.A.2    Marfil, L.J.3
  • 4
    • 0030025612 scopus 로고    scopus 로고
    • Molecular genetics of human antithrombin deficiency
    • Perry DJ, Carrell RW. Molecular genetics of human antithrombin deficiency. Hum Mutat 1996; 7:7-22
    • (1996) Hum Mutat , vol.7 , pp. 7-22
    • Perry, D.J.1    Carrell, R.W.2
  • 5
    • 77951767998 scopus 로고    scopus 로고
    • Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: A systematic review and meta-Analysis of observational studies
    • Kenet G, Lütkhoff LK, Albisetti M, Bernard T, Bonduel M, Brandao L, et al. Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: A systematic review and meta-Analysis of observational studies. Circulation 2010; 121:1838-1847
    • (2010) Circulation , vol.121 , pp. 1838-1847
    • Kenet, G.1    Lütkhoff, L.K.2    Albisetti, M.3    Bernard, T.4    Bonduel, M.5    Brandao, L.6
  • 6
  • 8
    • 62549106201 scopus 로고    scopus 로고
    • Antithrombin Cambridge II (A384S) supports a role for antithrombin deficiency in arterial thrombosis
    • Rolda'n V, Ordoñez A, Mari'n F, Zorio E, Soria JM, Miñano A, et al. Antithrombin Cambridge II (A384S) supports a role for antithrombin deficiency in arterial thrombosis. Thromb Haemost 2009; 101:483-486
    • (2009) Thromb Haemost , vol.101 , pp. 483-486
    • Rolda'N, V.1    Ordoñez, A.2    Mari'N, F.3    Zorio, E.4    Soria, J.M.5    Miñano, A.6
  • 9
    • 0027190863 scopus 로고
    • Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia
    • Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G, Thein SL. Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia. Biochemistry 1993; 32:4216-4224
    • (1993) Biochemistry , vol.32 , pp. 4216-4224
    • Olds, R.J.1    Lane, D.A.2    Chowdhury, V.3    De Stefano, V.4    Leone, G.5    Thein, S.L.6
  • 11
    • 79961046359 scopus 로고    scopus 로고
    • Arterial and venous thrombosis and prothrombotic fibrin clot phenotype in a Polish family with type 1 antithrombin deficiency (antithrombin Krakow
    • Celinska-Lowenhoff M, Iwaniec T, Alhenc-Gelas M, Musial J, Undas A. Arterial and venous thrombosis and prothrombotic fibrin clot phenotype in a Polish family with type 1 antithrombin deficiency (antithrombin Krakow). Thromb Haemost 2011; 106:379-381
    • (2011) Thromb Haemost , vol.106 , pp. 379-381
    • Celinska-Lowenhoff, M.1    Iwaniec, T.2    Alhenc-Gelas, M.3    Musial, J.4    Undas, A.5
  • 13
    • 0028004006 scopus 로고
    • Molecular basis for type 1 antithrombin deficiency: Identification of two novel point mutations and evidence for a de novo splice site mutation
    • Jochmans K, Lissens W, Yin T, Michiels JJ, van der Luit L, Peerlinck K, et al. Molecular basis for type 1 antithrombin deficiency: Identification of two novel point mutations and evidence for a de novo splice site mutation. Blood 1994; 84:3742-3748
    • (1994) Blood , vol.84 , pp. 3742-3748
    • Jochmans, K.1    Lissens, W.2    Yin, T.3    Michiels, J.J.4    Van Der Luit, L.5    Peerlinck, K.6
  • 15
    • 2542572621 scopus 로고    scopus 로고
    • Molecular basis of inherited antithrombin deficiency in Portuguese families: Identification of genetic alterations and screening for additional thrombotic risk factors
    • David D, Ribeiro S, Ferräo L, Gago T, Crespo F. Molecular basis of inherited antithrombin deficiency in Portuguese families: Identification of genetic alterations and screening for additional thrombotic risk factors. Am J Hematol 2004; 76:163-171
    • (2004) Am J Hematol , vol.76 , pp. 163-171
    • David, D.1    Ribeiro, S.2    Ferräo, L.3    Gago, T.4    Crespo, F.5
  • 16
    • 35848935826 scopus 로고    scopus 로고
    • Inhibition of thrombin generation in recalcified plasma
    • Stief TW. Inhibition of thrombin generation in recalcified plasma. Blood Coagul Fibrinolysis 2007; 18:751-760
    • (2007) Blood Coagul Fibrinolysis , vol.18 , pp. 751-760
    • Stief, T.W.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.