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Volumn 10, Issue 2, 2004, Pages 194-196

Factor VIII gene intron 1 inversion: Lower than expected prevalence in Italian haemophiliac severe patients [1]

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD CLOTTING FACTOR 8; DNA FRAGMENT;

EID: 1542360805     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2003.00855.x     Document Type: Letter
Times cited : (23)

References (12)
  • 1
    • 0027520025 scopus 로고
    • Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
    • Lakich D, Kazazian HH, Jr, Antonarakis SE, Gitschier J. Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A. Nature Genet 1993; 5: 236-41.
    • (1993) Nature Genet. , vol.5 , pp. 236-241
    • Lakich, D.1    Kazazian Jr., H.H.2    Antonarakis, S.E.3    Gitschier, J.4
  • 2
    • 0027376685 scopus 로고
    • Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions
    • Naylor J, Brinke A, Hassock S, Green PM, Giannelli F. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. Hum Mol Genet 1993; 2: 1773-8.
    • (1993) Hum. Mol. Genet. , vol.2 , pp. 1773-1778
    • Naylor, J.1    Brinke, A.2    Hassock, S.3    Green, P.M.4    Giannelli, F.5
  • 3
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A
    • Bagnall D, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe haemophilia A. Blood 2002; 99: 168-74.
    • (2002) Blood , vol.99 , pp. 168-174
    • Bagnall, D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 4
    • 0036839068 scopus 로고    scopus 로고
    • Intron factor VIII gene inversion in a population of Italian hemophilia A patients
    • Riccardi F, Tagliaferri A, Manotti C, Pattacini C, Neri TM. Intron factor VIII gene inversion in a population of Italian hemophilia A patients. Blood 2002; 100: 3432.
    • (2002) Blood , vol.100 , pp. 3432
    • Riccardi, F.1    Tagliaferri, A.2    Manotti, C.3    Pattacini, C.4    Neri, T.M.5
  • 5
    • 0037309487 scopus 로고    scopus 로고
    • Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A
    • Tizzano EF, Cornet M, Baiget M. Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A. Haematologica 2003; 88: 118-20.
    • (2003) Haematologica , vol.88 , pp. 118-120
    • Tizzano, E.F.1    Cornet, M.2    Baiget, M.3
  • 7
    • 1542284834 scopus 로고    scopus 로고
    • Significant prevalence of the intron 1 factor VIII gene inversion among patients with severe hemophilia A in the Czech Republic
    • Habart D, Kalabova D, Hrachovinova I, Vorlova Z. Significant prevalence of the intron 1 factor VIII gene inversion among patients with severe hemophilia A in the Czech Republic. J Thromb Haemost 2003; 1: 1323-4.
    • (2003) J. Thromb. Haemost. , vol.1 , pp. 1323-1324
    • Habart, D.1    Kalabova, D.2    Hrachovinova, I.3    Vorlova, Z.4
  • 8
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in haemophilia A
    • Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in haemophilia A. Blood 1998; 92: 1458-9.
    • (1998) Blood , vol.92 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 9
    • 0029095603 scopus 로고
    • Factor VIII gene inversions in severe hemophilia A: Results of an International Consortium Study
    • Antonarakis SE, Rossiter JP, Young M et al. Factor VIII gene inversions in severe hemophilia A: results of an International Consortium Study. Blood 1995; 86: 2206-12.
    • (1995) Blood , vol.86 , pp. 2206-2212
    • Antonarakis, S.E.1    Rossiter, J.P.2    Young, M.3
  • 10
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Ganguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90: 10325-9.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 11
    • 0029617930 scopus 로고
    • Mutation type determines risk of inhibitor formation
    • Schwaab R, Brakman H, Meyer C et al. Mutation type determines risk of inhibitor formation. Thromb Haemost 1995; 74: 1402-6.
    • (1995) Thromb. Haemost. , vol.74 , pp. 1402-1406
    • Schwaab, R.1    Brakman, H.2    Meyer, C.3
  • 12
    • 0141505910 scopus 로고    scopus 로고
    • Mutation reports: Intron 1 and 22 inversions in Indian haemophilics
    • Ahmed R, Kannan M, Prakash Choudhry V, Saxena R. Mutation reports: intron 1 and 22 inversions in Indian haemophilics. Ann Hematol 2003; 82: 546-7.
    • (2003) Ann. Hematol. , vol.82 , pp. 546-547
    • Ahmed, R.1    Kannan, M.2    Prakash Choudhry, V.3    Saxena, R.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.