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Volumn 10, Issue 5, 1999, Pages 229-231

Detection of two novel mutations (nt2762, exon 2, CAG to TAG, and nt2483 or 2484, exon 2, +A) in individuals with congenital type I antithrombin deficiencies

Author keywords

Analysis; Antithrombin; Deficiency; Gene; Thrombosis

Indexed keywords

CELL DNA;

EID: 0032807680     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/00001721-199907000-00002     Document Type: Article
Times cited : (4)

References (8)
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    • (1987) Haemostasis and Thrombosis , pp. 849-869
    • Barrowcliff, T.W.1
  • 2
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    • Assignment of the human antithrombin III structural gene to chromosome 1q23-25
    • 2. Bock SC, Harris JF, Balazs I, Trent JM. Assignment of the human antithrombin III structural gene to chromosome 1q23-25. Cytogenet Cell Genet 1985; 39: 67-69.
    • (1985) Cytogenet Cell Genet , vol.39 , pp. 67-69
    • Bock, S.C.1    Harris, J.F.2    Balazs, I.3    Trent, J.M.4
  • 3
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    • Inherited antithrombin deficiency causing thrombophilia
    • 3. Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516-530.
    • (1965) Thromb Diath Haemorrh , vol.13 , pp. 516-530
    • Egeberg, O.1
  • 6
    • 0030025612 scopus 로고    scopus 로고
    • Molecular genetics of human antithrombin deficiency
    • 6. Perry DJ, Carrel RW. Molecular genetics of human antithrombin deficiency. Hum Mut 1996; 7: 7-22.
    • (1996) Hum Mut , vol.7 , pp. 7-22
    • Perry, D.J.1    Carrel, R.W.2
  • 7
    • 0024342726 scopus 로고
    • Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support
    • 7. Hultman T, Stahl S, Hornes E, Uhlen M. Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support. Nucl Acids Res 1989; 17: 4937-4946.
    • (1989) Nucl Acids Res , vol.17 , pp. 4937-4946
    • Hultman, T.1    Stahl, S.2    Hornes, E.3    Uhlen, M.4
  • 8
    • 0030945361 scopus 로고    scopus 로고
    • Genetic analysis in Japanese kindreds of congenital type I antithrombin deficiency causing thrombosis
    • 8. Nakahara Y, Tsuji H, Nakagawa K, Masuda H, Kitamura H, Nishimura H, et al. Genetic analysis in Japanese kindreds of congenital type I antithrombin deficiency causing thrombosis. Thromb Haemost 1997; 77: 616-619.
    • (1997) Thromb Haemost , vol.77 , pp. 616-619
    • Nakahara, Y.1    Tsuji, H.2    Nakagawa, K.3    Masuda, H.4    Kitamura, H.5    Nishimura, H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.