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Volumn 24, Issue 4, 2013, Pages 444-448

Prevalence of hereditary antithrombin mutations is higher than estimated in patients with thrombotic events

Author keywords

antithrombin deficiency; antithrombin mutation; thromboembolism; thrombophilia

Indexed keywords

ACTIVATED PROTEIN C; ANTITHROMBIN III; BLOOD CLOTTING FACTOR 8; D DIMER; FIBRINOGEN; HOMOCYSTEINE; LIPOPROTEIN A; LOW MOLECULAR WEIGHT HEPARIN;

EID: 84877703339     PISSN: 09575235     EISSN: 14735733     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32835cc143     Document Type: Article
Times cited : (23)

References (30)
  • 1
    • 0001627642 scopus 로고
    • Inherited Antithrombin deficiency causing thrombophilia
    • Egeberg O. Inherited Antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965;13:516-530.
    • (1965) Thromb Diath Haemorrh , vol.13 , pp. 516-530
    • Egeberg, O.1
  • 2
  • 7
    • 0034018595 scopus 로고    scopus 로고
    • Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency. Partial/complete deletions and rearrangement of the antithrombin gene
    • Beauchamp NJ, Makris M, Preston FE, Peake IR, Daly ME. Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency partial/complete deletions and rearrangement of the antithrombin gene. Thromb Haemost 2000;83:715-721. (Pubitemid 30248520)
    • (2000) Thrombosis and Haemostasis , vol.83 , Issue.5 , pp. 715-721
    • Beauchamp, N.J.1    Makris, M.2    Preston, F.E.3    Peake, I.R.4    Daly, M.E.5
  • 9
    • 0026581799 scopus 로고
    • Antithrombin III Budapest: A single amino acid substitution (429Pro to Leu) in a region highly conserved in the serpin family
    • Olds RJ, Lane DA, Caso R, Panico M, Morris HR, Sas G, et al. Antithrombin III Budapest: a single amino acid substitution (429Pro to Leu) in a region highly conserved in the serpin family. Blood 1992;79:1206-1212.
    • (1992) Blood , vol.79 , pp. 1206-1212
    • Olds, R.J.1    Lane, D.A.2    Caso, R.3    Panico, M.4    Morris, H.R.5    Sas, G.6
  • 10
    • 0026572495 scopus 로고
    • Antithrombin Budapest 3: An antithrombin variant with reduced heparin affinity resulting from the substitution L99F
    • Olds RJ, Lane DA, Boisclair M, Sas G, Bock SC, Thein SL. Antithrombin Budapest 3: an antithrombin variant with reduced heparin affinity resulting from the substitution L99F. FEBS Lett 1992;300:241-246.
    • (1992) FEBS Lett , vol.300 , pp. 241-246
    • Olds, R.J.1    Lane, D.A.2    Boisclair, M.3    Sas, G.4    Bock, S.C.5    Thein, S.L.6
  • 13
    • 34548701083 scopus 로고    scopus 로고
    • Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): Demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk [7]
    • DOI 10.1160/TH07-01-0067
    • Rossi E, Chiusolo P, Za T, Marietti S, Ciminello A, Leone G, et al. Report of a novel kindred with antithrombin heparin-binding site variant (47 Arg to His): demand for an automated progressive antithrombin assay to detect molecular variants with low thrombotic risk. Thromb Haemost 2007;98:695-697. (Pubitemid 47412904)
    • (2007) Thrombosis and Haemostasis , vol.98 , Issue.3 , pp. 695-697
    • Rossi, E.1    Chiusolo, P.2    Za, T.3    Marietti, S.4    Ciminello, A.5    Leone, G.6    De Stefano, V.7
  • 14
    • 0010736777 scopus 로고
    • Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: Review of 404 cases
    • Finazzi G, Caccia R, Barbui T. Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: review of 404 cases. Thromb Haemost 1987;58:1094.
    • (1987) Thromb Haemost , vol.58 , pp. 1094
    • Finazzi, G.1    Caccia, R.2    Barbui, T.3
  • 19
    • 0030037196 scopus 로고    scopus 로고
    • Molecular genetics of antithrombin deficiency
    • DOI 10.1016/S0268-960X(96)90034-X
    • Lane DA, Kunz G, Olds RJ, Thein SL. Molecular genetics of antithrombin deficiency. Blood Rev 1996;10:59-74. (Pubitemid 26234214)
    • (1996) Blood Reviews , vol.10 , Issue.2 , pp. 59-74
    • Lane, D.A.1    Kunz, G.2    Olds, R.J.3    Thein, S.L.4
  • 20
    • 78549236460 scopus 로고    scopus 로고
    • Usefulness of antithrombin deficiency phenotypes for risk assessment of venous thromboembolism: Type i deficiency as a strong risk factor for venous thromboembolism
    • MitsuguroM, Sakata T, Okamoto A, Kameda S, Kokubo Y, Tsutsumi Y, et al. Usefulness of antithrombin deficiency phenotypes for risk assessment of venous thromboembolism: type I deficiency as a strong risk factor for venous thromboembolism. Int J Hematol 2010;92:468-473.
    • (2010) Int J Hematol , vol.92 , pp. 468-473
    • Mitsugurom Sakata, T.1    Okamoto, A.2    Kameda, S.3    Kokubo, Y.4    Tsutsumi, Y.5
  • 24
    • 0032741802 scopus 로고    scopus 로고
    • Risk factors for venous thrombotic disease
    • Rosendaal FR. Risk factors for venous thrombotic disease. Thromb Haemost 1999;82:610-619.
    • (1999) Thromb Haemost , vol.82 , pp. 610-619
    • Rosendaal, F.R.1
  • 25
    • 0026551482 scopus 로고
    • The pregnant antithrombin III deficient patient: Management without antithrombin III concentrate
    • Blondel-Hill E, Mant MJ. The pregnant antithrombin III deficient patient: management without antithrombin III concentrate. Thromb Res 1992;65:193-198.
    • (1992) Thromb Res , vol.65 , pp. 193-198
    • Blondel-Hill, E.1    Mant, M.J.2
  • 26
    • 0024948587 scopus 로고
    • CpG dinucleotides are 'hotspots' for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction
    • Perry DJ, Carrell RW. CpG dinucleotides are 'hotspots' for mutation in the antithrombin III gene. Twelve variants identified using the polymerase chain reaction. Mol Biol Med 1989;6:239-243. (Pubitemid 20092737)
    • (1989) Molecular Biology and Medicine , vol.6 , Issue.3 , pp. 239-243
    • Perry, D.J.1    Carrell, R.W.2
  • 27
    • 0025009868 scopus 로고
    • Antithrombin Dublin (-3 Val ! Glu): An N-terminal variant which has an aberrant signal peptidase cleavage site
    • Daly M, Bruce D, Perry DJ, Price J, Harper PL, O'Meara A, et al. Antithrombin Dublin (-3 Val ! Glu): an N-terminal variant which has an aberrant signal peptidase cleavage site. FEBS Lett 1990;273:87-90.
    • (1990) FEBS Lett , vol.273 , pp. 87-90
    • Daly, M.1    Bruce, D.2    Perry, D.J.3    Price, J.4    Harper, P.L.5    O'Meara, A.6
  • 28
    • 79954756912 scopus 로고    scopus 로고
    • The phenotypic and genetic assessment of antithrombin deficiency
    • Cooper PC, Coath F, Daly ME, Makris M. The phenotypic and genetic assessment of antithrombin deficiency. Int J Lab Hematol 2011;33:227-237.
    • (2011) Int J Lab Hematol , vol.33 , pp. 227-237
    • Cooper, P.C.1    Coath, F.2    Daly, M.E.3    Makris, M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.