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Volumn 15, Issue 2, 2004, Pages 125-127

Hunting for the mutation in inherited thrombophilia

Author keywords

Antithrombin; Mutation; Protein C; Protein S; Thrombophilia

Indexed keywords

CLINICAL RESEARCH; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INHERITANCE; LABORATORY; MUTATIONAL ANALYSIS; PATHOGENESIS; PATHOPHYSIOLOGY; PRIORITY JOURNAL; REVIEW; THROMBOPHILIA;

EID: 1642279864     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-200403000-00002     Document Type: Review
Times cited : (8)

References (10)
  • 1
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    • Evaluation of protein C and S activity assessment in more than 1700 consecutive thrombotic patients in the light of DNA sequencing
    • Labrouche S, Reboul MP, Guėrin V, Javorschi S, Freyburger G. Evaluation of protein C and S activity assessment in more than 1700 consecutive thrombotic patients in the light of DNA sequencing. Blood Coagul Fibrinolysis 2003; 14:531-538.
    • (2003) Blood Coagul Fibrinolysis , vol.14 , pp. 531-538
    • Labrouche, S.1    Reboul, M.P.2    Guerin, V.3    Javorschi, S.4    Freyburger, G.5
  • 2
    • 0032189797 scopus 로고    scopus 로고
    • Hereditary thrombophilia in a family with three independent protein S and C mutations. A cause of adverse perinatal outcome
    • Schild RL, Lobb MO, Voke JM. Hereditary thrombophilia in a family with three independent protein S and C mutations. A cause of adverse perinatal outcome. Eur J Obstet Gynecol Reprod Biol 1998; 80: 283-285.
    • (1998) Eur J Obstet Gynecol Reprod Biol , vol.80 , pp. 283-285
    • Schild, R.L.1    Lobb, M.O.2    Voke, J.M.3
  • 3
    • 0023233223 scopus 로고
    • Absence of thrombosis in subjects with heterozygous protein C deficiency
    • Miletich J, Sherman L, Broze G Jr. Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med 1987; 317:991-996.
    • (1987) N Engl J Med , vol.317 , pp. 991-996
    • Miletich, J.1    Sherman, L.2    Broze Jr., G.3
  • 5
    • 0034017008 scopus 로고    scopus 로고
    • Protein C deficiency and venous thrombosis - The search for the second genetic defect
    • Bertina RM. Protein C deficiency and venous thrombosis - the search for the second genetic defect. Thromb Haemost 2000; 83:360-361.
    • (2000) Thromb Haemost , vol.83 , pp. 360-361
    • Bertina, R.M.1
  • 6
    • 0032190251 scopus 로고    scopus 로고
    • Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: A study of 150 families
    • Martinelli I, Mannucci PM, De Stefano, V, Taioli E, Rossi V, Crosti F, et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood 1998; 92:2353-2358.
    • (1998) Blood , vol.92 , pp. 2353-2358
    • Martinelli, I.1    Mannucci, P.M.2    De Stefano, V.3    Taioli, E.4    Rossi, V.5    Crosti, F.6
  • 7
    • 0032700739 scopus 로고    scopus 로고
    • Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene
    • Hermida J, Faioni EM, Mannucci PM. Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. Thromb Haemost 1999; 82:1634-1638.
    • (1999) Thromb Haemost , vol.82 , pp. 1634-1638
    • Hermida, J.1    Faioni, E.M.2    Mannucci, P.M.3
  • 9
    • 0033510180 scopus 로고    scopus 로고
    • The molecular genetics of familial venous thrombosis
    • Simioni P. The molecular genetics of familial venous thrombosis. Baillieres Best Pract Res Clin Haematol 1999; 12:479-503.
    • (1999) Baillieres Best Pract Res Clin Haematol , vol.12 , pp. 479-503
    • Simioni, P.1
  • 10
    • 0030858409 scopus 로고    scopus 로고
    • Antithrombin: Molecular basis of deficiency
    • Bayston TA, Lane DA. Antithrombin: molecular basis of deficiency. Thromb Haemost 1997; 78:339-343.
    • (1997) Thromb Haemost , vol.78 , pp. 339-343
    • Bayston, T.A.1    Lane, D.A.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.