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Volumn 12, Issue 10, 2012, Pages 997-1006

Role of polymorphisms in factor V (FV leiden), prothrombin, plasminogen activator inhibitor type-1 (PAI-1), methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) genes as risk factors for thrombophilias

Author keywords

Coagulation factors; Fibrinolysis; Gene polymorphisms; Hypercoagulability; Thrombophilias; Thrombosis

Indexed keywords

ACETYLSALICYLIC ACID; ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 5A; BLOOD CLOTTING FACTOR 7A; CYANOCOBALAMIN; CYSTATHIONINE BETA SYNTHASE; ENOXAPARIN; FOLIC ACID; FONDAPARINUX; HEPARIN; LOW MOLECULAR WEIGHT HEPARIN; METFORMIN; METHYLENETETRAHYDROFOLATE REDUCTASE (NADPH2); PLASMINOGEN ACTIVATOR INHIBITOR 1; PROTHROMBIN; PYRIDOXINE; RECOMBINANT HIRUDIN; STREPTOKINASE; WARFARIN;

EID: 84866459949     PISSN: 13895575     EISSN: 18755607     Source Type: Journal    
DOI: 10.2174/138955712802762338     Document Type: Review
Times cited : (16)

References (69)
  • 1
    • 84866445203 scopus 로고    scopus 로고
    • Thrombophilias: The importance of clinical screening in thromboembolic disease
    • Fonseca, A.G.; Amaro, M. Thrombophilias: the importance of clinical screening in thromboembolic disease. Rev. Soc. Port. Med. Int., 2008, 15(4), 284-290.
    • (2008) Rev. Soc. Port. Med. Int , vol.15 , Issue.4 , pp. 284-290
    • Fonseca, A.G.1    Amaro, M.2
  • 2
    • 67650601123 scopus 로고    scopus 로고
    • Predisposing thrombophilic mutations in individuals with clinical suspicion of thrombosis from Minas Gerais, Brazil
    • Guimarães, S.P.; Soares, J.B.B.; Oliveira, V.C.; Pardini, V.C.; Ferreira, A.C.S. Predisposing thrombophilic mutations in individuals with clinical suspicion of thrombosis from Minas Gerais, Brazil. Rev. Bras. Hematol. Hemoter., 2009, 31(1), 19-24.
    • (2009) Rev. Bras. Hematol. Hemoter , vol.31 , Issue.1 , pp. 19-24
    • Guimarães, S.P.1    Soares, J.B.B.2    Oliveira, V.C.3    Pardini, V.C.4    Ferreira, A.C.S.5
  • 3
    • 1842479111 scopus 로고    scopus 로고
    • Inherited thrombophilias
    • Franco, R.F. Inherited thrombophilias. Medicina, 2001, 34, 248-257.
    • (2001) Medicina , vol.34 , pp. 248-257
    • Franco, R.F.1
  • 4
    • 84866461830 scopus 로고    scopus 로고
    • Trombofilia: Quando Suspeitar e Como Investigar?
    • D'Amico, E.A. Trombofilia: Quando Suspeitar e Como Investigar? Rev. Assoc. Med. Bras., 2003, 49(1), 7-8.
    • (2003) Rev. Assoc. Med. Bras , vol.49 , Issue.1 , pp. 7-8
    • D'Amico, E.A.1
  • 5
    • 1842429896 scopus 로고    scopus 로고
    • Acquired Thrombophilias
    • Garcia, A.A.; Franco, R.F. Acquired Thrombophilias. Medicina, 2001, 34, 258-268.
    • (2001) Medicina , vol.34 , pp. 258-268
    • Garcia, A.A.1    Franco, R.F.2
  • 9
    • 33845905078 scopus 로고    scopus 로고
    • Thrombogenesis - Thrombophilia
    • Duque, F.L.V.; Mello, N.A. Thrombogenesis - Thrombophilia. J. Vasc. Br. 2003, 2(2), 105-118.
    • (2003) J. Vasc. Br , vol.2 , Issue.2 , pp. 105-118
    • Duque, F.L.V.1    Mello, N.A.2
  • 10
    • 33644606069 scopus 로고    scopus 로고
    • Management of antiphospholipid antibody syndrome: A systematic review
    • Lim, W.; Crowther, M.A.; Eikelboom, J.W. Management of antiphospholipid antibody syndrome: a systematic review. JAMA, 2006, 295, 1050-1057.
    • (2006) JAMA , vol.295 , pp. 1050-1057
    • Lim, W.1    Crowther, M.A.2    Eikelboom, J.W.3
  • 12
    • 79955978870 scopus 로고    scopus 로고
    • Causal relationship between hyperfibrinogenemia, thrombosis, and resistance to thrombolysis in mice
    • Machlus, K.R.; Cardenas, J.C.; Church, F.C.; Wolberg, A.S. Causal relationship between hyperfibrinogenemia, thrombosis, and resistance to thrombolysis in mice. Blood, 2011, 117(18), 4953-4963.
    • (2011) Blood , vol.117 , Issue.18 , pp. 4953-4963
    • Machlus, K.R.1    Cardenas, J.C.2    Church, F.C.3    Wolberg, A.S.4
  • 14
    • 35348842113 scopus 로고    scopus 로고
    • A novel anticoagulant protein with high affinity to blood coagulation factor Va from Tegillarca granosa
    • Jung, W.K.; Jo, H.Y.; Qian, Z.J.; Jeong, Y.J.; Park, S.G.; Choi, I.W.; Kim, S.K. A novel anticoagulant protein with high affinity to blood coagulation factor Va from Tegillarca granosa. J. Biochem. Mol. Biol., 2007, 40(5), 832-838.
    • (2007) J. Biochem. Mol. Biol , vol.40 , Issue.5 , pp. 832-838
    • Jung, W.K.1    Jo, H.Y.2    Qian, Z.J.3    Jeong, Y.J.4    Park, S.G.5    Choi, I.W.6    Kim, S.K.7
  • 19
    • 0038042286 scopus 로고    scopus 로고
    • The inherited thrombophilias: Genetics, epidemiology, and laboratory evaluation
    • Buchanan, G.S.; Rodgers, G.M.; Branch D.W. The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation. Best Pract. Res. Clin. Obstet. Gynaecol. 2003, 17(3), 397-411.
    • (2003) Best Pract. Res. Clin. Obstet. Gynaecol , vol.17 , Issue.3 , pp. 397-411
    • Buchanan, G.S.1    Rodgers, G.M.2    Branch, D.W.3
  • 20
    • 33646256586 scopus 로고    scopus 로고
    • Factor V Leiden, pregnancy complications and adverse outcomes: The Hordaland Homocysteine Study
    • Nurk, E.; Tell, G.S.; Refsum, H.; Ueland, P.M.; Vollset, S.E. Factor V Leiden, pregnancy complications and adverse outcomes: the Hordaland Homocysteine Study. QJM, 2006, 99(5), 289-298.
    • (2006) QJM , vol.99 , Issue.5 , pp. 289-298
    • Nurk, E.1    Tell, G.S.2    Refsum, H.3    Ueland, P.M.4    Vollset, S.E.5
  • 21
    • 78751615186 scopus 로고    scopus 로고
    • Factor V Leiden thrombophilias
    • Kujovich, J.L. Factor V Leiden thrombophilias. Genet. Med., 2011, 13(1), 1-16.
    • (2011) Genet. Med , vol.13 , Issue.1 , pp. 1-16
    • Kujovich, J.L.1
  • 22
    • 0034810180 scopus 로고    scopus 로고
    • Simultaneous allelespecific amplification: A strategy using modified primer-template mismatches for SNP detection-application to prothrombin 20210A (factor II) and factor V Leiden (1691A) gene mutations
    • Delrio-Lafreniere, S.A.; Mcglennen, R.C. Simultaneous allelespecific amplification: a strategy using modified primer-template mismatches for SNP detection-application to prothrombin 20210A (factor II) and factor V Leiden (1691A) gene mutations. Mol. Diagn., 2001, 6(3), 201-209.
    • (2001) Mol. Diagn , vol.6 , Issue.3 , pp. 201-209
    • Delrio-Lafreniere, S.A.1    McGlennen, R.C.2
  • 23
    • 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, S.R.; Rosendaal, F.R.; Reitsma, P.H.; Bertina, R.M. 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
  • 24
    • 0023230641 scopus 로고
    • Nucleotide sequence of the gene for human prothrombin
    • Degen, S.J.F.; Davie, E.W. Nucleotide sequence of the gene for human prothrombin. Biochemistry, 1987, 26(19), 6165-6177.
    • (1987) Biochemistry , vol.26 , Issue.19 , pp. 6165-6177
    • Degen, S.J.F.1    Davie, E.W.2
  • 25
    • 42749085196 scopus 로고    scopus 로고
    • Endogenous heparin activity is decreased in peripheral arterial occlusive disease
    • Shankar, V.K.; Handa, A.; Hands, L. Endogenous heparin activity is decreased in peripheral arterial occlusive disease. J. Vasc. Surg., 2008, 47(5), 1033-1038.
    • (2008) J. Vasc. Surg , vol.47 , Issue.5 , pp. 1033-1038
    • Shankar, V.K.1    Handa, A.2    Hands, L.3
  • 27
    • 33845526041 scopus 로고    scopus 로고
    • Type and location of venous thromboembolism in patients with factor V Leiden or prothrombin G20210A and in those with no thrombophilia
    • Martinelli I, Battaglioli T, Razzari C, Mannucci PM. Type and location of venous thromboembolism in patients with factor V Leiden or prothrombin G20210A and in those with no thrombophilia. J. Thromb. Haemost., 2007, 5(1), 98-101.
    • (2007) J. Thromb. Haemost , vol.5 , Issue.1 , pp. 98-101
    • Martinelli, I.1    Battaglioli, T.2    Razzari, C.3    Mannucci, P.M.4
  • 28
    • 77951428695 scopus 로고    scopus 로고
    • Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and Prothrombin G20210A
    • Lijfering, W.M.; Middeldorp, S.; Veeger, N.J.G.M.; Hamulyák, K.; Prins, M.H.; Büller, H.R.; van der Meer, J. Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and Prothrombin G20210A. Circulation, 2010, 121, 1706-1712.
    • (2010) Circulation , vol.121 , pp. 1706-1712
    • Lijfering, W.M.1    Middeldorp, S.2    Veeger, N.J.G.M.3    Hamulyák, K.4    Prins, M.H.5    Büller, H.R.6    van der Meer, J.7
  • 30
    • 43949108861 scopus 로고    scopus 로고
    • The direct thrombin inhibitor hirudin
    • Greinacher, A.; Warkentin, T.E. The direct thrombin inhibitor hirudin. Thromb. Haemost., 2008, 99, 819-829.
    • (2008) Thromb. Haemost , vol.99 , pp. 819-829
    • Greinacher, A.1    Warkentin, T.E.2
  • 31
    • 35148826082 scopus 로고    scopus 로고
    • Interaction with human plasminogen system turns on proteolytic activity in Streptococcus agalactiae and enhances its virulence in a mouse model
    • Magalhães, V.; Veiga-Malta, I.; Almeida, M.R.; Baptista, M.; Ribeiro, A.; Trieu-Cuot, P.; Ferreira, P. Interaction with human plasminogen system turns on proteolytic activity in Streptococcus agalactiae and enhances its virulence in a mouse model. Microbes Infect., 2007, 9(11), 1276-1284.
    • (2007) Microbes Infect , vol.9 , Issue.11 , pp. 1276-1284
    • Magalhães, V.1    Veiga-Malta, I.2    Almeida, M.R.3    Baptista, M.4    Ribeiro, A.5    Trieu-Cuot, P.6    Ferreira, P.7
  • 32
    • 0030997665 scopus 로고    scopus 로고
    • Human Plasminogen Activator Inhibitor-1 (PAI-1) Deficiency: Characterization of a Large Kindred With a Null Mutation in the PAI-1 Gene
    • Fay, W.P.; Parker, A.C.; Condrey, L.R.; Shapiro, A.D. Human Plasminogen Activator Inhibitor-1 (PAI-1) Deficiency: Characterization of a Large Kindred With a Null Mutation in the PAI-1 Gene. Blood, 1997, 90, 204-208.
    • (1997) Blood , vol.90 , pp. 204-208
    • Fay, W.P.1    Parker, A.C.2    Condrey, L.R.3    Shapiro, A.D.4
  • 33
    • 0031791998 scopus 로고    scopus 로고
    • A rapid detection method for PAI-1 promoter insertion/deletion polymorphism (4G/5G
    • Annichino-Bizzacchi, J.M.; Pugliese, L.; Arruda, V.R. A rapid detection method for PAI-1 promoter insertion/deletion polymorphism (4G/5G). Genet. Mol. Biol., 1998, 21(3), 315-316.
    • (1998) Genet. Mol. Biol , vol.21 , Issue.3 , pp. 315-316
    • Annichino-Bizzacchi, J.M.1    Pugliese, L.2    Arruda, V.R.3
  • 34
    • 77951586510 scopus 로고    scopus 로고
    • Research 4G/5G polymorphism of PAI-1 gene is associated with multiple organ dysfunction and septic shock in pneumonia induced severe sepsis: Prospective, observational, genetic study
    • Madách, K.; Aladzsity, I.; Szilágyi, Á. Fust, G.; Gál, J.; Pénzes, I.; Prohászka, Z. Research 4G/5G polymorphism of PAI-1 gene is associated with multiple organ dysfunction and septic shock in pneumonia induced severe sepsis: prospective, observational, genetic study. Crit. Care, 2010, 14, R79.
    • (2010) Crit. Care , vol.14
    • Madách, K.1    Aladzsity, I.2    Szilágyi, Á.3    Fust, G.4    Gál, J.5    Pénzes, I.6    Prohászka, Z.7
  • 35
    • 0027311245 scopus 로고
    • The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells
    • Dawson, S.J.; Wiman, B.; Hamsten, A.; Green, F.; Humphries, S.; Henney, A.M. The two allele sequences of a common polymorphism in the promoter of the plasminogen activator inhibitor-1 (PAI-1) gene respond differently to interleukin-1 in HepG2 cells. J. Biol. Chem., 1993, 268(15), 10739-10745.
    • (1993) J. Biol. Chem , vol.268 , Issue.15 , pp. 10739-10745
    • Dawson, S.J.1    Wiman, B.2    Hamsten, A.3    Green, F.4    Humphries, S.5    Henney, A.M.6
  • 36
    • 0028901713 scopus 로고
    • Allelic-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction
    • Eriksson, P.; Kallin, B.; Van T'hooft, F.M.; Bavhenolm, P.; Hamsten, A. Allelic-specific increase in basal transcription of the plasminogen-activator inhibitor 1 gene is associated with myocardial infarction. Proc. Natl. Acad. Sci. USA, 1995, 92, 1851-1855.
    • (1995) Proc. Natl. Acad. Sci. USA , vol.92 , pp. 1851-1855
    • Eriksson, P.1    Kallin, B.2    van T'hooft, F.M.3    Bavhenolm, P.4    Hamsten, A.5
  • 40
    • 0033765190 scopus 로고    scopus 로고
    • PAI-1 promoter 4G/5G genotype as an additional risk factor for venous thrombosis in subjects with genetic thrombophilic defects
    • Seguí, R., Estellés, A., Mira, Y., España, F., Villa, P., Falcó, C., Vayá, A., Grancha, S., Ferrando, F., Aznar, J. PAI-1 promoter 4G/5G genotype as an additional risk factor for venous thrombosis in subjects with genetic thrombophilic defects. Br. J. Haematol. 2000, 111(1), 122-128.
    • (2000) Br. J. Haematol , vol.111 , Issue.1 , pp. 122-128
    • Seguí, R.1    Estellés, A.2    Mira, Y.3    España, F.4    Villa, P.5    Falcó, C.6    Vayá, A.7    Grancha, S.8    Ferrando, F.9    Aznar, J.10
  • 41
    • 0035909969 scopus 로고    scopus 로고
    • Genetic variation in coagulation and fibrinolytic proteins and their relation with acute myocardial infarction: A Systematic Review
    • Boekholdt, S.M.; Bijsterveld, N.R.; Moons, A.H.M.; Levi, M.; Büller, H.R.; Peters, R.J.G. Genetic variation in coagulation and fibrinolytic proteins and their relation with acute myocardial infarction: A Systematic Review. Circulation, 2001, 104, 3063-3068.
    • (2001) Circulation , vol.104 , pp. 3063-3068
    • Boekholdt, S.M.1    Bijsterveld, N.R.2    Moons, A.H.M.3    Levi, M.4    Büller, H.R.5    Peters, R.J.G.6
  • 42
    • 0034660437 scopus 로고    scopus 로고
    • Plasminogen-activator inhibitor type 1 and coronary artery disease
    • Kohler, H.P.; Grant, P.J. Plasminogen-activator inhibitor type 1 and coronary artery disease. N. Engl. J. Med., 2000, 342(24), 1792-1801.
    • (2000) N. Engl. J. Med , vol.342 , Issue.24 , pp. 1792-1801
    • Kohler, H.P.1    Grant, P.J.2
  • 43
    • 0027274012 scopus 로고
    • Deficiency of plasma plasminogen activator inhibitor 1 results in hyperfibrinolytic bleeding
    • Lee, M.H.; Vosburgh, E.; Anderson, K.; McDonagh, J. Deficiency of plasma plasminogen activator inhibitor 1 results in hyperfibrinolytic bleeding. Blood, 1993, 81, 2357-2362.
    • (1993) Blood , vol.81 , pp. 2357-2362
    • Lee, M.H.1    Vosburgh, E.2    Anderson, K.3    McDonagh, J.4
  • 45
    • 33646811482 scopus 로고    scopus 로고
    • Increase in plasma plasminogen activators inhibitor type 1 concentration after fibrinolytic treatment in patients with acute myocardial infarction is associated with 4G/5G polymorphism of PAI-1 gene
    • Mlynarska, A.; Waszyrowski, T.; Kasprzak, J.D. Increase in plasma plasminogen activators inhibitor type 1 concentration after fibrinolytic treatment in patients with acute myocardial infarction is associated with 4G/5G polymorphism of PAI-1 gene. J. Thromb. Haemost., 2006, 4(6),1361-1366.
    • (2006) J. Thromb. Haemost , vol.4 , Issue.6 , pp. 1361-1366
    • Mlynarska, A.1    Waszyrowski, T.2    Kasprzak, J.D.3
  • 46
    • 0037934711 scopus 로고    scopus 로고
    • Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: Impaired fibrinolysis and early pregnancy loss
    • Dossenbach-Glaninger, A.; van Trotsenburg, M.; Dossenbach, M.; Oberkanins, C.; Moritz, A.; Krugluger, W.; Huber, J.; Hopmeier, P. Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: impaired fibrinolysis and early pregnancy loss. Clin. Chem., 2003, 49(7), 1081-1086.
    • (2003) Clin. Chem , vol.49 , Issue.7 , pp. 1081-1086
    • Dossenbach-Glaninger, A.1    van Trotsenburg, M.2    Dossenbach, M.3    Oberkanins, C.4    Moritz, A.5    Krugluger, W.6    Huber, J.7    Hopmeier, P.8
  • 49
    • 34249896704 scopus 로고    scopus 로고
    • MTHFR 677CC/1298CC genotypes are highly associated with chronic myelogenous leukemia: A case-control study in Korea
    • Moon, H.W.; Kim, T.Y.; Oh, B.R.; Min, H.C.; Cho, H.I.; Bang, S.M.; Lee, J.H.; Yoon, S.S.; Lee, D.S. MTHFR 677CC/1298CC genotypes are highly associated with chronic myelogenous leukemia: a case-control study in Korea. Leuk Res., 2007, 31, 1213-1217.
    • (2007) Leuk Res , vol.31 , pp. 1213-1217
    • Moon, H.W.1    Kim, T.Y.2    Oh, B.R.3    Min, H.C.4    Cho, H.I.5    Bang, S.M.6    Lee, J.H.7    Yoon, S.S.8    Lee, D.S.9
  • 51
    • 84876085180 scopus 로고    scopus 로고
    • Prevalence of MTHFR G1793A polimorfism in elderly- Itajaí, (SC)
    • Persuhn, D.C.; Sack, D.; Schütz, T.L.; Melo, S.S. Prevalence of MTHFR G1793A polimorfism in elderly- Itajaí, (SC). Rev. Bras. Anal. Clin., 2006, 38(1), 47-50.
    • (2006) Rev. Bras. Anal. Clin , vol.38 , Issue.1 , pp. 47-50
    • Persuhn, D.C.1    Sack, D.2    Schütz, T.L.3    Melo, S.S.4
  • 52
    • 1842529053 scopus 로고    scopus 로고
    • Homocisteína e transtornos psiquiátricos
    • Sachdev, P. Homocisteína e transtornos psiquiátricos. Rev. Bras. Psiquiatr., 2004, 26(1), 50-56.
    • (2004) Rev. Bras. Psiquiatr , vol.26 , Issue.1 , pp. 50-56
    • Sachdev, P.1
  • 54
    • 68849089586 scopus 로고    scopus 로고
    • Obstrução arterial retiniana periférica associada com hiperhomocisteinemia: Relato de caso
    • Misawa, A.K.; Suzuki, H.; Maia Júnior, O.O.; Bonanomi, M.T.B.C.; Melo, C.S.N. Obstrução arterial retiniana periférica associada com hiperhomocisteinemia: relato de caso. Arq Bras Oftalmol., 2008, 71(5), 729-733.
    • (2008) Arq Bras Oftalmol , vol.71 , Issue.5 , pp. 729-733
    • Misawa, A.K.1    Suzuki, H.2    Maia Jr., O.O.3    Bonanomi, M.T.B.C.4    Melo, C.S.N.5
  • 55
    • 0042347998 scopus 로고    scopus 로고
    • Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency
    • Tonetti, C.; Saudubray, J.M.; Echenne, B.; Landrieu, P.; Giraudier, S.; Zittoun, J. Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency. Eur. J. Pediatr., 2003, 162, 466-475.
    • (2003) Eur. J. Pediatr , vol.162 , pp. 466-475
    • Tonetti, C.1    Saudubray, J.M.2    Echenne, B.3    Landrieu, P.4    Giraudier, S.5    Zittoun, J.6
  • 57
    • 0033887407 scopus 로고    scopus 로고
    • Hyperhomocysteinemia and thrombosis
    • Makris, M. Hyperhomocysteinemia and thrombosis. Clin. Lab. Haem., 2000, 22(3), 133-143.
    • (2000) Clin. Lab. Haem , vol.22 , Issue.3 , pp. 133-143
    • Makris, M.1
  • 60
    • 84876076397 scopus 로고    scopus 로고
    • Genetics Home Reference, Accessed September 14, 2011
    • Genetics Home Reference. CBS gene. Available: http://ghr.nlm.nih.gov/gene=cbs [Accessed September 14, 2011].
    • CBS Gene
  • 61
    • 84876071843 scopus 로고    scopus 로고
    • CBS Mutation Database, Accessed September 16, 2011
    • CBS Mutation Database. Available: http://cbs.lf1.cuni.cz/index.php [Accessed September 16, 2011].
  • 62
    • 0027372857 scopus 로고
    • Molecular basis of cystathionine ß-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria
    • Hu, F.L.; Gu, Z.; Kozich, V.; Kraus, J.P.; Ramesh, V.; Shih, V.E. Molecular basis of cystathionine ß-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria Hum. Mol. Genet. 1993, 2, 1857-1860.
    • (1993) Hum. Mol. Genet , vol.2 , pp. 1857-1860
    • Hu, F.L.1    Gu, Z.2    Kozich, V.3    Kraus, J.P.4    Ramesh, V.5    Shih, V.E.6
  • 63
    • 0029903031 scopus 로고    scopus 로고
    • Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria
    • Tsai, M.Y.; Garg, U.; Key, N.S.; Hanson, N.Q.; Suh, A.; Schwichtenberg, K.A. Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria. Atherosclerosis, 1996, 122, 69-77.
    • (1996) Atherosclerosis , vol.122 , pp. 69-77
    • Tsai, M.Y.1    Garg, U.2    Key, N.S.3    Hanson, N.Q.4    Suh, A.5    Schwichtenberg, K.A.6
  • 64
    • 0029829735 scopus 로고    scopus 로고
    • High prevalence of a mutation in the cystathionine beta-synthase gene
    • Tsai, M.Y.; Bignell, M.; Schwichtenberg, K.; Hanson, N.Q. High prevalence of a mutation in the cystathionine beta-synthase gene. Am. J. Hum. Genet. 1996, 59, 1262-1267.
    • (1996) Am. J. Hum. Genet , vol.59 , pp. 1262-1267
    • Tsai, M.Y.1    Bignell, M.2    Schwichtenberg, K.3    Hanson, N.Q.4
  • 65
    • 0031793253 scopus 로고    scopus 로고
    • Heterogeneous Ethnic Distribution of the 844ins68 in the Cystathionine ß-Synthase Gene
    • Franco, R.F.; Elion, J.; Lavinha, J.; Krishnamoorthy, R.; Tavella, M.H.; Zago, M. A. Heterogeneous Ethnic Distribution of the 844ins68 in the Cystathionine ß-Synthase Gene. Hum. Hered., 1998, 48, 338-342.
    • (1998) Hum. Hered , vol.48 , pp. 338-342
    • Franco, R.F.1    Elion, J.2    Lavinha, J.3    Krishnamoorthy, R.4    Tavella, M.H.5    Zago, M.A.6
  • 66
    • 0035159120 scopus 로고    scopus 로고
    • Genetic risk factors of venous thrombosis
    • Franco, R.F.; Reitsma, P.H. Genetic risk factors of venous thrombosis. Hum. Genet., 2001, 109, 369-384.
    • (2001) Hum. Genet , vol.109 , pp. 369-384
    • Franco, R.F.1    Reitsma, P.H.2
  • 69
    • 67650753876 scopus 로고    scopus 로고
    • The Treatment of Hyperhomocysteinemia
    • Maron, B.A.; Loscalzo, J. The Treatment of Hyperhomocysteinemia. Annu. Rev. Med., 2009, 60, 39-54.
    • (2009) Annu. Rev. Med , vol.60 , pp. 39-54
    • Maron, B.A.1    Loscalzo, J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.