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Volumn 7, Issue 5, 1996, Pages 578-579

A novel nonsense mutation in the antithrombin III gene (Cys-4 → stop) causing recurrent venous thrombosis

Author keywords

Antithrombin III; Mutation; Thrombophilia

Indexed keywords

ANTITHROMBIN III;

EID: 0029815238     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-199607000-00010     Document Type: Article
Times cited : (8)

References (11)
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    • Complete nucleotide sequence of the antithrombin gene: Evidence for homozygous recombination causing thrombophilia
    • Olds RJ, Lane DA, Chowdhury V, De Stefano V, Leone G, Them S-L. Complete nucleotide sequence of the antithrombin gene: evidence for homozygous recombination causing thrombophilia. Biochemistry 1993; 32: 4216-4224.
    • (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    Them, S.-L.6
  • 3
    • 0001627642 scopus 로고
    • Inherited antithrombin III deficiency causing thrombophilia
    • Egeberg O. Inherited antithrombin III deficiency causing thrombophilia. Thromb Diath Haemorrhag 1965; 13: 516-530.
    • (1965) Thromb Diath Haemorrhag , vol.13 , pp. 516-530
    • Egeberg, O.1
  • 4
    • 0027291270 scopus 로고
    • Antithrombin III mutation database: First update
    • Lane DA, Olds RJ, Boisclair M, et al. 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
  • 5
    • 0025935840 scopus 로고
    • Molecular basis for antithrombin 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 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
  • 6
    • 0028101168 scopus 로고
    • Molecular basis of antithrombin type I deficiency: The first large in-frame deletion and two novel mutations in exon 6
    • Emmerich J, Chadeuf G, Alhenc-Gelas M, et al. Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6. Thromb Haemost 1994; 72: 534-539.
    • (1994) Thromb Haemost , vol.72 , pp. 534-539
    • Emmerich, J.1    Chadeuf, G.2    Alhenc-Gelas, M.3
  • 7
    • 0027983874 scopus 로고
    • Hereditary antithrombin deficiency: Heterogeneity of the molecular basis and mortality in Dutch families
    • Van Boven HH, Olds RJ, Thein S-L, et al. Hereditary antithrombin deficiency: heterogeneity of the molecular basis and mortality in Dutch families. Blood 1994; 84: 4209-4213.
    • (1994) Blood , vol.84 , pp. 4209-4213
    • Van Boven, H.H.1    Olds, R.J.2    Thein, S.-L.3
  • 8
    • 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
  • 10
    • 0027274861 scopus 로고
    • Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening
    • Chowdhury V, Olds RJ, Lane DA, et al. Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening. Br J Haematol 1993; 84: 656-661.
    • (1993) Br J Haematol , vol.84 , pp. 656-661
    • Chowdhury, V.1    Olds, R.J.2    Lane, D.A.3
  • 11
    • 0027221054 scopus 로고
    • Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis
    • Millar DS, Lopez A, White D, et al. Screening for mutations in the antithrombin III gene causing recurrent venous thrombosis by single-strand conformation polymorphism analysis. Human Mutation 1993; 2: 324-236.
    • (1993) Human Mutation , vol.2 , pp. 324-1236
    • Millar, D.S.1    Lopez, A.2    White, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.