메뉴 건너뛰기




Volumn 124, Issue 8, 2006, Pages 1165-1169

Retinal vein occlusion associated with antithrombin deficiency secondary to a novel G9840C missense mutation

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; ANTITHROMBOCYTIC AGENT; ASPARTIC ACID; CYTOSINE; GUANOSINE; HISTIDINE;

EID: 33747155571     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.124.8.1165     Document Type: Article
Times cited : (5)

References (37)
  • 2
    • 0032777633 scopus 로고    scopus 로고
    • Idiopathic central retinal vein occlusion in a thrombophilic patient with the heterozygous 20210 G/A prothrombin genotype
    • Incorvaia C, Lamberti G, Parmeggiani F, et al. Idiopathic central retinal vein occlusion in a thrombophilic patient with the heterozygous 20210 G/A prothrombin genotype. Am J Ophthalmol. 1999;128:247-248.
    • (1999) Am J Ophthalmol , vol.128 , pp. 247-248
    • Incorvaia, C.1    Lamberti, G.2    Parmeggiani, F.3
  • 3
    • 0031674570 scopus 로고    scopus 로고
    • Heparin cofactor II deficiency in central retinal vein occlusion
    • Hattenbach LO, Klais C, Scharrer I. Heparin cofactor II deficiency in central retinal vein occlusion. Acta Ophthalmol Scand. 1998;76:758-759.
    • (1998) Acta Ophthalmol Scand , vol.76 , pp. 758-759
    • Hattenbach, L.O.1    Klais, C.2    Scharrer, I.3
  • 5
    • 0037307769 scopus 로고    scopus 로고
    • Recurrent retinal vein occlusion in a patient with increased plasma levels of histidine-rich glycoprotein
    • Kuhli C, Scharrer I, Koch F, Hattenbach LO. Recurrent retinal vein occlusion in a patient with increased plasma levels of histidine-rich glycoprotein. Am J Ophthalmol. 2003;135:232-234.
    • (2003) Am J Ophthalmol , vol.135 , pp. 232-234
    • Kuhli, C.1    Scharrer, I.2    Koch, F.3    Hattenbach, L.O.4
  • 6
    • 1542267394 scopus 로고    scopus 로고
    • Factor XII deficiency: A thrombophilic risk factor for retinal vein occlusion
    • Kuhli C, Scharrer I, Koch F, Ohrloff C, Hattenbach LO. Factor XII deficiency: a thrombophilic risk factor for retinal vein occlusion. Am J Ophthalmol. 2004;137:459-464.
    • (2004) Am J Ophthalmol , vol.137 , pp. 459-464
    • Kuhli, C.1    Scharrer, I.2    Koch, F.3    Ohrloff, C.4    Hattenbach, L.O.5
  • 7
    • 0025962740 scopus 로고
    • Antithrombin: Structure and function
    • Pratt CW, Church FC. Antithrombin: structure and function. Semin Hematol. 1991;28:3-9.
    • (1991) Semin Hematol , vol.28 , pp. 3-9
    • Pratt, C.W.1    Church, F.C.2
  • 8
    • 0020488026 scopus 로고
    • Cloning and expression of the cDNA for human antithrombin III gene
    • Bock SC, Wion KL, Vehar GA, Lawn RM. Cloning and expression of the cDNA for human antithrombin III gene. Nucleic Acids Res. 1982;10:8113-8125.
    • (1982) Nucleic Acids Res , vol.10 , pp. 8113-8125
    • Bock, S.C.1    Wion, K.L.2    Vehar, G.A.3    Lawn, R.M.4
  • 9
    • 0021914307 scopus 로고
    • Assignment of the human antithrombin III structural gene to chromosome 1q23-25
    • Bock SC, Harris JF, Balazs I, Trent JM. Assignment of the human antithrombin III structural gene to chromosome 1q23-25. Cytogenet Cell Genet. 1985;39:67-69.
    • (1985) Cytogenet Cell Genet , vol.39 , pp. 67-69
    • Bock, S.C.1    Harris, J.F.2    Balazs, I.3    Trent, J.M.4
  • 10
    • 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
  • 12
    • 0018190174 scopus 로고
    • Antithrombin III: Critical review of assay methods: significance of variations in health and disease
    • Odegard OR, Abildgaard U. Antithrombin III: critical review of assay methods: significance of variations in health and disease. Haemostasis. 1978;7:127-134.
    • (1978) Haemostasis , vol.7 , pp. 127-134
    • Odegard, O.R.1    Abildgaard, U.2
  • 13
    • 0023745012 scopus 로고
    • Incidence of thromboembolism in association with congenital disorders in coagulation and fibrinolysis
    • Conard J, Horellou MH, Samama M. Incidence of thromboembolism in association with congenital disorders in coagulation and fibrinolysis. Acta Chir Scand Suppl. 1988;543:15-25.
    • (1988) Acta Chir Scand Suppl , vol.543 , pp. 15-25
    • Conard, J.1    Horellou, M.H.2    Samama, M.3
  • 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 [letter]. Thromb Haemost. 1987;58:1094.
    • (1987) Thromb Haemost , vol.58 , pp. 1094
    • Finazzi, G.1    Caccia, R.2    Barbui, T.3
  • 15
    • 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;239:487-491.
    • (1988) Science , vol.239 , pp. 487-491
    • Saiki, R.K.1    Gelfand, D.H.2    Stoffel, S.3
  • 17
    • 0016680840 scopus 로고
    • Investigations on antithrombin III in normal plasma and serum
    • Sas G, Pepper D, Cash J. Investigations on antithrombin III in normal plasma and serum. Br J Haematol. 1975;30:265-272.
    • (1975) Br J Haematol , vol.30 , pp. 265-272
    • Sas, G.1    Pepper, D.2    Cash, J.3
  • 18
    • 1842353216 scopus 로고
    • Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
    • Kunkel LM, Smith KD, Boyer SD, et al. Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A. 1977;74:1245-1249.
    • (1977) Proc Natl Acad Sci U S A , vol.74 , pp. 1245-1249
    • Kunkel, L.M.1    Smith, K.D.2    Boyer, S.D.3
  • 19
    • 0025241674 scopus 로고
    • A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis
    • Olds RJ, Lane DA, Finazzi G, Barbui T, Thein SL. A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis. Blood. 1990;76:2182-2186.
    • (1990) Blood , vol.76 , pp. 2182-2186
    • Olds, R.J.1    Lane, D.A.2    Finazzi, G.3    Barbui, T.4    Thein, S.L.5
  • 20
    • 0025935840 scopus 로고
    • Molecular basis for antithrombin III type I deficiency: Three novel mutations located in exon IV
    • Vidaud D, Emmerich J, Sirieix ME, Sié P, Alhenc-Gelas M, Aiach M. Molecular basis for antithrombin III type I deficiency: three novel mutations located in exon IV. Blood. 1991;78:2305-2309.
    • (1991) Blood , vol.78 , pp. 2305-2309
    • Vidaud, D.1    Emmerich, J.2    Sirieix, M.E.3    Sié, P.4    Alhenc-Gelas, M.5    Aiach, M.6
  • 21
    • 0028047592 scopus 로고
    • Antithrombin-Gly 424 Arg: A novel point mutation responsible for type I antithrombin deficiency and neonatal thrombosis
    • Jochmans K, Lissens W, Vervoort R, Peeters S, De Waele M, Liebaers I. Antithrombin-Gly 424 Arg: a novel point mutation responsible for type I antithrombin deficiency and neonatal thrombosis. Blood. 1994;83:146-151.
    • (1994) Blood , vol.83 , pp. 146-151
    • Jochmans, K.1    Lissens, W.2    Vervoort, R.3    Peeters, S.4    De Waele, M.5    Liebaers, I.6
  • 22
    • 0024595101 scopus 로고
    • Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms
    • Orita M, Iwahana H, Kanazawa H, Hayashi K, Sekiya T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc Natl Acad Sci U S A. 1989;86:2766-2770.
    • (1989) Proc Natl Acad Sci U S A , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 25
    • 0027291270 scopus 로고
    • Antithrombin III mutation database: First update
    • Lane DA, Olds RJ, Boisclair M, et al; Thrombin and Its Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Antithrombin III mutation database: first update. Thromb Haemost. 1993;70:361-369.
    • (1993) Thromb Haemost , vol.70 , pp. 361-369
    • Lane, D.A.1    Olds, R.J.2    Boisclair, M.3
  • 26
    • 0028041527 scopus 로고
    • Antithrombin III: Summary of first database update
    • Lane DA, Olds RJ, Thein SL. Antithrombin III: summary of first database update. Nucleic Acids Res. 1994;22:3556-3559.
    • (1994) Nucleic Acids Res , vol.22 , pp. 3556-3559
    • Lane, D.A.1    Olds, R.J.2    Thein, S.L.3
  • 27
    • 0027190863 scopus 로고
    • Complete nucleotide sequence of antithrombin gene: Evidence for homologous recombination causing thrombophilia
    • Olds RJ, Lane DL, Chawdhury V, De Stefano V, Leone G, Thein SL. Complete nucleotide sequence of 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.L.2    Chawdhury, V.3    De Stefano, V.4    Leone, G.5    Thein, S.L.6
  • 28
    • 0027446268 scopus 로고
    • Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: A prediction of a cofactor to activated protein C
    • Dahlbäck B, Carlson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: a prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A. 1993;90:1004-1008.
    • (1993) Proc Natl Acad Sci U S A , vol.90 , pp. 1004-1008
    • Dahlbäck, B.1    Carlson, M.2    Svensson, P.J.3
  • 29
    • 0029850530 scopus 로고    scopus 로고
    • A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis
    • Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698-3703.
    • (1996) Blood , vol.88 , pp. 3698-3703
    • Poort, S.R.1    Rosendaal, F.R.2    Reitsma, P.H.3    Bertina, R.M.4
  • 31
    • 0025241268 scopus 로고
    • Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis
    • Heijboer H, Brandjes DP, Buller HR, Sturk A, ten Cate JW. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. N Engl J Med. 1990;323:1512-1516.
    • (1990) N Engl J Med , vol.323 , pp. 1512-1516
    • Heijboer, H.1    Brandjes, D.P.2    Buller, H.R.3    Sturk, A.4    Ten Cate, J.W.5
  • 32
    • 0025855781 scopus 로고
    • Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis
    • Tabernero MD, Tomas JF, Alberca I, et al. Incidence and clinical characteristics of hereditary disorders associated with venous thrombosis. Am J Hematol. 1991;36:249-254.
    • (1991) Am J Hematol , vol.36 , pp. 249-254
    • Tabernero, M.D.1    Tomas, J.F.2    Alberca, I.3
  • 33
    • 0015821564 scopus 로고
    • The purification and mechanism of action of human antithrombin-heparin cofactor
    • Rosenberg RD, Damus PS. The purification and mechanism of action of human antithrombin-heparin cofactor. J Biol Chem. 1973;248:6490-6505.
    • (1973) J Biol Chem , vol.248 , pp. 6490-6505
    • Rosenberg, R.D.1    Damus, P.S.2
  • 34
    • 0028004006 scopus 로고
    • Molecular basis for the 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, et al. Molecular basis for the 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
  • 35
    • 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, 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
  • 36
    • 0025814592 scopus 로고
    • Molecular basis for hereditary antithrombin III quantitative deficiencies: A stop codon in exon IIIa and a frameshift in exon VI
    • Gandrille S, Vidaud D, Emmerich J, et al. Molecular basis for hereditary antithrombin III quantitative deficiencies: a stop codon in exon IIIa and a frameshift in exon VI. Br J Haematol. 1991;78:414-420.
    • (1991) Br J Haematol , vol.78 , pp. 414-420
    • Gandrille, S.1    Vidaud, D.2    Emmerich, J.3
  • 37
    • 0025764758 scopus 로고
    • Novel point mutations leading to type 1 antithrombin deficiency and thrombosis
    • Olds RJ, Lane DA, Ireland H, et al. Novel point mutations leading to type 1 antithrombin deficiency and thrombosis. Br J Haematol. 1991;78:408-413.
    • (1991) Br J Haematol , vol.78 , pp. 408-413
    • Olds, R.J.1    Lane, D.A.2    Ireland, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.