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Volumn 89, Issue 1, 2004, Pages 117-118

Identification of six novel mutations in type I antithrombin deficient Italian families

Author keywords

Antithrombin; Gene; Mutations; Thrombosis

Indexed keywords

ANTITHROMBIN; DNA;

EID: 0842306997     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (5)

References (10)
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  • 3
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    • The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutations
    • Margaglione M, D'Andrea G, D'Addedda M, Giuliani N, Cappucci G, Iannaccone L, et al. The methylenetetrahydrofolate reductase TT677 genotype is associated with venous thrombosis independently of the coexistence of the FV Leiden and the prothrombin A20210 mutations. Thromb Haemost 1998;79:907-11
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  • 4
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    • Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening
    • Chowdhury V, Olds RJ, Lane DA, Conard J, Pabinger I, Ryan K, et al. Identification of nine novel mutations in type I antithrombin deficiency by heteroduplex screening. Br J Haematol 1993;84:656-61.
    • (1993) Br J Haematol , vol.84 , pp. 656-661
    • Chowdhury, V.1    Olds, R.J.2    Lane, D.A.3    Conard, J.4    Pabinger, I.5    Ryan, K.6
  • 5
    • 0028004006 scopus 로고
    • Molecular basis for type I antithrombin deficiency: Identification of two novel mutations and evidence for a de novo splice mutation
    • Jochmans K, Lissens W, Yin T, Michiels JJ, van der Luit L, Peerlinck K, et al. Molecular basis for type I antithrombin deficiency: identification of two novel mutations and evidence for a de novo splice mutation. Blood 1994;84:3742-8.
    • (1994) Blood , vol.84 , pp. 3742-3748
    • Jochmans, K.1    Lissens, W.2    Yin, T.3    Michiels, J.J.4    Van Der Luit, L.5    Peerlinck, K.6
  • 6
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    • Ectopic transcript analysis in human antithrombin deficiency
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    • Perry, D.J.1
  • 7
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    • De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: Demonstration of exon skipping by ectopic transcript analysis
    • Berg LP, Grundy CB, Thomas F, Millar DS, Green PJ, Slomski R, et al. De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. Genomics 1992;13:1359-61.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.