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Volumn 85, Issue 6, 1997, Pages 515-517

A novel 4 base pair deletion mutation inducing type I antithrombin deficiency

Author keywords

antithrombin; deficiency; deletion; thrombosis

Indexed keywords

ADULT; ANTITHROMBIN DEFICIENCY; ARTICLE; CASE REPORT; FEMALE; GENE DELETION; HUMAN; MUTATION; PRIORITY JOURNAL;

EID: 0030904470     PISSN: 00493848     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0049-3848(97)00040-6     Document Type: Article
Times cited : (2)

References (8)
  • 1
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    • Antithrombin III mutation database: First update. For the thrombin and its inhibitors subcommittee of the scientific and standardizaton committee of the international society on thrombosis and haemostasis
    • LANE D. A., OLDS R. J., BOISCLAIR M., CHOWDHURY V., THEIN S. L., COOPER D. N., BLAJCHMAN M., PERRY D., EMMERICH J., AIACH M. Antithrombin III mutation database: First update. For the thrombin and its inhibitors subcommittee of the scientific and standardizaton committee of the international society on thrombosis and haemostasis. Thromb Haemost 70 , 361-369, 1993.
    • (1993) Thromb Haemost , vol.70 , pp. 361-369
    • Lane, D.A.1    Olds, R.J.2    Boisclair, M.3    Chowdhury, V.4    Thein, S.L.5    Cooper, D.N.6    Blajchman, M.7    Perry, D.8    Emmerich, J.9    Aiach, M.10
  • 2
    • 0030025612 scopus 로고    scopus 로고
    • Molecular genetics of human antithrombin deficiency
    • PERRY, D. J., CARRELL R. W. Molecular genetics of human antithrombin deficiency. Hum Mutat 7, 7-22, 1996.
    • (1996) Hum Mutat , vol.7 , pp. 7-22
    • Perry, D.J.1    Carrell, R.W.2
  • 3
    • 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 USA86, 2766-2770, 1989.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 2766-2770
    • Orita, M.1    Iwahana, H.2    Kanazawa, H.3    Hayashi, K.4    Sekiya, T.5
  • 4
    • 0025935840 scopus 로고
    • Molecular basis for antithrombin III type I deficiency: Three novel mutations located in exon IV
    • VIDAUD D., EMMERICH J., SIRIEIX, M. E., ALHENC-GELAS M., AIACH M. Molecular basis for antithrombin III type I deficiency: Three novel mutations located in exon IV. Blood 78:, 2305-2309, 1991.
    • (1991) Blood , vol.78 , pp. 2305-2309
    • Vidaud, D.1    Emmerich, J.2    Sirieix, M.E.3    Alhenc-Gelas, M.4    Aiach, M.5
  • 5
    • 0027190863 scopus 로고
    • Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia
    • OLDS R. J., LANE D. A., CHOWDHURY V., DE STEFANO V., LEONE G., THEIN S.L. Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. Biochemistry 32:, 4216-4224, 1993.
    • (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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.