메뉴 건너뛰기




Volumn 88, Issue 7, 2003, Pages 778-784

Analysis of large structural changes of the factor VIII gene, involving intron 1 and 22, in severe hemophilia A

Author keywords

Factor VIII; Hemophilia A; Intron 1 inversion, long distance PCR; Intron 22 inversion

Indexed keywords

BLOOD CLOTTING FACTOR 8;

EID: 0037700749     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (52)

References (21)
  • 2
    • 0029095603 scopus 로고
    • Factor VIII gene inversions in severe haemophilia A: Results of an international consortium study
    • Antonarakis SE, Rossiter JP, Young M, Horst J, de Moerloose P, Sommer SS, et al. Factor VIII gene inversions in severe haemophilia 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    Horst, J.4    De Moerloose, P.5    Sommer, S.S.6
  • 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 RD, Waseem N, Green PM, Gianelli 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, R.D.1    Waseem, N.2    Green, P.M.3    Gianelli, F.4
  • 4
    • 0034998368 scopus 로고    scopus 로고
    • A haemophilia A and B molecular genetic diagnostic program in Hungary: A highly informative and cost-effective strategy
    • Klein I, Andrikovics H, Bors A, Nemes L, Tordai A, Váradi A. A haemophilia A and B molecular genetic diagnostic program in Hungary: a highly informative and cost-effective strategy. Haemophilia 2001;7:306-12.
    • (2001) Haemophilia , vol.7 , pp. 306-312
    • Klein, I.1    Andrikovics, H.2    Bors, A.3    Nemes, L.4    Tordai, A.5    Váradi, A.6
  • 5
    • 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. Nucl Acid Res 1988;16:1215-8.
    • (1988) Nucl Acid Res , vol.16 , pp. 1215-1218
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 6
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
    • Liu Q, Nozari G, Sommer SS. Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A. Blood 1998;92:1458-9.
    • (1998) Blood , vol.92 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 8
    • 0027031720 scopus 로고
    • Amino acid substitutions in conserved domains of factor VIII and related proteins: Study of patients with mild and moderately severe haemophilia A
    • Diamond C, Kogan S, Levinson B, Gitschier J. Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe haemophilia A. Hum Mutat 1992;1:248-57.
    • (1992) Hum Mutat , vol.1 , pp. 248-257
    • Diamond, C.1    Kogan, S.2    Levinson, B.3    Gitschier, J.4
  • 9
    • 0028122895 scopus 로고
    • Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A
    • Windsor S, Taylor SAM, Lillicrap D. Direct detection of a common inversion mutation in the genetic diagnosis of severe hemophilia A. Blood 1994;84:2202-5.
    • (1994) Blood , vol.84 , pp. 2202-2205
    • Windsor, S.1    Taylor, S.A.M.2    Lillicrap, D.3
  • 10
    • 0029990366 scopus 로고    scopus 로고
    • Intron 22 of factor VIII gene - A hot spot for structural aberrations causing severe hemophilia A
    • Schröder W, Wehnert M, Herrmann FH. Intron 22 of factor VIII gene - a hot spot for structural aberrations causing severe hemophilia A. Blood 1996;87:3067-8.
    • (1996) Blood , vol.87 , pp. 3067-3068
    • Schröder, W.1    Wehnert, M.2    Herrmann, F.H.3
  • 11
    • 0030860224 scopus 로고    scopus 로고
    • The factor VIII mutation database on the World Wide Web: The haemophilia A mutation, search, test and resource site - HAMSTers update (version 3.0)
    • Kernball Cook G, Tuddenham EGD. The factor VIII mutation database on the World Wide Web: the haemophilia A mutation, search, test and resource site - HAMSTers update (version 3.0). Nuc Acid Res 1997;25:128-32.
    • (1997) Nuc Acid Res , vol.25 , pp. 128-132
    • Kernball Cook, G.1    Tuddenham, E.G.D.2
  • 12
    • 0030008039 scopus 로고    scopus 로고
    • Possible misdiagnosis of factor VIII gene inversion in a case of severe hemophilia A
    • Benichou B, Herbert O, Huet S, Andre MT, Bezieau S, Le Roux MG, et al. Possible misdiagnosis of factor VIII gene inversion in a case of severe hemophilia A. Blood 1996;87:3525-6.
    • (1996) Blood , vol.87 , pp. 3525-3526
    • Benichou, B.1    Herbert, O.2    Huet, S.3    Andre, M.T.4    Bezieau, S.5    Le Roux, M.G.6
  • 13
    • 0026508201 scopus 로고
    • A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases
    • Lavergne JM, Bahnak BR, Vidaud M, Laurian Y, Meyer D. A directed search for mutations in hemophilia A using restriction enzyme analysis and denaturing gradient gel electrophoresis. A study of seven exons in the factor VIII gene of 170 cases. Nou Rev Franc Hematol 1992;34:85-91.
    • (1992) Nou Rev Franc Hematol , vol.34 , pp. 85-91
    • Lavergne, J.M.1    Bahnak, B.R.2    Vidaud, M.3    Laurian, Y.4    Meyer, D.5
  • 14
    • 0029257362 scopus 로고
    • Factor VIII gene rearrangement analysis and carrier determination in haemophilia A
    • Poon MC, Low S, Sinclair GD. Factor VIII gene rearrangement analysis and carrier determination in haemophilia A. J Lab Clin Med 1995;125:402-6.
    • (1995) J Lab Clin Med , vol.125 , pp. 402-406
    • Poon, M.C.1    Low, S.2    Sinclair, G.D.3
  • 16
    • 0029960168 scopus 로고    scopus 로고
    • Clinical correlates among 49 families with haemophilia A and factor VIII gene inversions
    • Weinmann AF, Schoof JM, Thompson AR. Clinical correlates among 49 families with haemophilia A and factor VIII gene inversions. Am J Hematol 1996;51:192-9.
    • (1996) Am J Hematol , vol.51 , pp. 192-199
    • Weinmann, A.F.1    Schoof, J.M.2    Thompson, A.R.3
  • 17
    • 0028965732 scopus 로고
    • Another unique variant pattern of intron 22 rearrangement in factor VIII gene seen in a haemophilia A family
    • Enayat MS, Theophilus BDM, Williams MD, Hill FGH. Another unique variant pattern of intron 22 rearrangement in factor VIII gene seen in a haemophilia A family. Blood 1995;85: 2639-41.
    • (1995) Blood , vol.85 , pp. 2639-2641
    • Enayat, M.S.1    Theophilus, B.D.M.2    Williams, M.D.3    Hill, F.G.H.4
  • 19
    • 0029033458 scopus 로고
    • Inversions of the factor VIII gene in Swedish patients with severe haemophilia A
    • Ljung R, Sjörin E. Inversions of the factor VIII gene in Swedish patients with severe haemophilia A. Eur J Haematol 1995;54:310-3.
    • (1995) Eur J Haematol , vol.54 , pp. 310-313
    • Ljung, R.1    Sjörin, E.2
  • 20
    • 0033016612 scopus 로고    scopus 로고
    • Inversions of the factor VIII gene in Slovenian patients with severe haemophilia A
    • Strmecki L, Benedik-Dolnicar M, Vidan-Jeras M, Komel R. Inversions of the factor VIII gene in Slovenian patients with severe haemophilia A. Eur J Haematol 1999;63:64-6.
    • (1999) Eur J Haematol , vol.63 , pp. 64-66
    • Strmecki, L.1    Benedik-Dolnicar, M.2    Vidan-Jeras, M.3    Komel, R.4
  • 21
    • 0031243577 scopus 로고    scopus 로고
    • Another variant pattern of intron 22 inversion in factor VIII gene seen in a severe haemophilia A patient
    • Enayat MS, Theophilus BDM, Williams MD, Wilde JT, Hill FGH. Another variant pattern of intron 22 inversion in factor VIII gene seen in a severe haemophilia A patient. Thromb Haemost 1997;78:1303.
    • (1997) Thromb Haemost , vol.78 , pp. 1303
    • Enayat, M.S.1    Theophilus, B.D.M.2    Williams, M.D.3    Wilde, J.T.4    Hill, F.G.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.