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Volumn 91, Issue 9, 2006, Pages 1264-1267

Detection of heterozygous large deletions in the antithrombin gene using multiplex polymerase chain reaction and denatured high performance liquid chromatography

Author keywords

Antithrombin; Detection of heterozygous deletion; DHPLC; Large deletion

Indexed keywords

ANTITHROMBIN;

EID: 33748789057     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (24)

References (19)
  • 1
    • 0026636703 scopus 로고
    • Rapid detection of chromosome aneuploidies in uncultured amniocytes by using florescencs in situ hybridization (FISH)
    • Klinger K, Landes G, Shook D, Harvey R, Lopez YL, Iocke P, et al. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using florescencs in situ hybridization (FISH). Am J Hum Genet 1992;51:55-65.
    • (1992) Am J Hum Genet , vol.51 , pp. 55-65
    • Klinger, K.1    Landes, G.2    Shook, D.3    Harvey, R.4    Lopez, Y.L.5    Iocke, P.6
  • 3
    • 0034650292 scopus 로고    scopus 로고
    • Measurement of locus copy number by hybridization with amplifiable probe
    • Armour JAL, Sismani C, Patsalis PC, Cross G. Measurement of locus copy number by hybridization with amplifiable probe. Nucleic Acids Res 2000;28:605-9.
    • (2000) Nucleic Acids Res , vol.28 , pp. 605-609
    • Armour, J.A.L.1    Sismani, C.2    Patsalis, P.C.3    Cross, G.4
  • 5
    • 2342578875 scopus 로고    scopus 로고
    • MLPA and MAPH: New techniques for detection of gene deletions
    • Sellner LN and Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004;23:413-9.
    • (2004) Hum Mutat , vol.23 , pp. 413-419
    • Sellner, L.N.1    Taylor, G.R.2
  • 7
    • 0034127946 scopus 로고    scopus 로고
    • Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR
    • Purroy J, Bisceglia L, Jaeken J, Gasparini P, Palacin M, Nunes, V. Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR. Hum Mutat 2000;15:373-9.
    • (2000) Hum Mutat , vol.15 , pp. 373-379
    • Purroy, J.1    Bisceglia, L.2    Jaeken, J.3    Gasparini, P.4    Palacin, M.5    Nunes, V.6
  • 8
    • 0000520709 scopus 로고
    • Comparative DNA sequence by denaturing high performance liquid chromatography (DHPLC)
    • Oefner PJ and Underhill PA. Comparative DNA sequence by denaturing high performance liquid chromatography (DHPLC). Am J Hum Genet 1995;57:A266
    • (1995) Am J Hum Genet , vol.57
    • Oefner, P.J.1    Underhill, P.A.2
  • 9
    • 0033737005 scopus 로고    scopus 로고
    • High-accuracy DNA sequence variation screening by DHPLC
    • Spiegelman JI, Mindrinos MN, Oefner PJ. High-accuracy DNA sequence variation screening by DHPLC. Biotechniques 2000;29:1084-90.
    • (2000) Biotechniques , vol.29 , pp. 1084-1090
    • Spiegelman, J.I.1    Mindrinos, M.N.2    Oefner, P.J.3
  • 12
    • 0030037196 scopus 로고    scopus 로고
    • Molecular genetics of antithrombin deficiency
    • Lane DA, Kunz G, Olds RJ, Thein SL. Molecular genetics of antithrombin deficiency. Blood Rev 1996;10:59-74.
    • (1996) Blood Rev , vol.10 , pp. 59-74
    • Lane, D.A.1    Kunz, G.2    Olds, R.J.3    Thein, S.L.4
  • 14
    • 0026756680 scopus 로고
    • Partial deletion in antithrombin III allele in kindred with type I deficiency
    • Fernandez-Rachubinski F, Rachubinski RA, Blajchman MA. Partial deletion in antithrombin III allele in kindred with type I deficiency. Blood 1992;80:1476-85.
    • (1992) Blood , vol.80 , pp. 1476-1485
    • Fernandez-Rachubinski, F.1    Rachubinski, R.A.2    Blajchman, M.A.3
  • 16
    • 0034018595 scopus 로고    scopus 로고
    • Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency
    • Beauchamp NJ, Makris M, Preston FE, Peake R, Daly ME. Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency. Thromb Haemost 2000;83:715-21.
    • (2000) Thromb Haemost , vol.83 , pp. 715-721
    • Beauchamp, N.J.1    Makris, M.2    Preston, F.E.3    Peake, R.4    Daly, M.E.5
  • 17
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 18
    • 0021914307 scopus 로고
    • Assignment of the human antithrombin III structural gene to chromosome 1q23-25
    • Bock SC, Harris JF, Balazs I, Trent JM. Assignment of the human antithrombin III structural gene to chromosome 1q23-25. Cytogenet Cell Genet 1995;39:67-9.
    • (1995) Cytogenet Cell Genet , vol.39 , pp. 67-69
    • Bock, S.C.1    Harris, J.F.2    Balazs, I.3    Trent, J.M.4
  • 19
    • 0027190863 scopus 로고
    • Complete nucleotide sequence of the antithrombin gene: Evidence for homologous recombination causing thrombophilia
    • Olds RJ, Lane DA, Chowdhury V, Stefano V, Leone G, Thein SL. Complete nucleotide sequence of the antithrombin gene: evidence for homologous recombination causing thrombophilia. Biochemistry 1993;32:4216-24.
    • (1993) Biochemistry , vol.32 , pp. 4216-4224
    • Olds, R.J.1    Lane, D.A.2    Chowdhury, V.3    Stefano, V.4    Leone, G.5    Thein, S.L.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.