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Volumn 90, Issue 5, 2005, Pages 707-710

The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations

Author keywords

F8C; Factor VIII mutation; Hemophilia A

Indexed keywords

BLOOD CLOTTING FACTOR 8;

EID: 20344405733     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (33)

References (10)
  • 1
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    • Factor VIII gene inversions in severe hemophilia 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 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    Horst, J.4    De Moerloose, P.5    Sommer, S.S.6
  • 2
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
    • Bagnall RD, Waseem N, Green PM, Giannelli F. Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A. Blood 2002;99:168-74.
    • (2002) Blood , vol.99 , pp. 168-174
    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 4
    • 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
  • 5
    • 0028216006 scopus 로고
    • Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism
    • David D, Moreira I, Lalloz MR, Rosa HA, Schwaab R, Morais S, et al. Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism. Blood Coagul Fibrinolysis 1994;5:257-64.
    • (1994) Blood Coagul Fibrinolysis , vol.5 , pp. 257-264
    • David, D.1    Moreira, I.2    Lalloz, M.R.3    Rosa, H.A.4    Schwaab, R.5    Morais, S.6
  • 8
    • 0032402122 scopus 로고    scopus 로고
    • The life cycle of coagulation factor VIII in view of its structure and function
    • Lenting PJ, van Mourik JA, Mertens K. The life cycle of coagulation factor VIII in view of its structure and function. Blood 1998;92:3983-96.
    • (1998) Blood , vol.92 , pp. 3983-3996
    • Lenting, P.J.1    Van Mourik, J.A.2    Mertens, K.3
  • 9
    • 0036186809 scopus 로고    scopus 로고
    • The identification and classification of 41 novel mutations in the factor VIII gene (F8C)
    • Cutler JA, Mitchell MJ, Smith MP, Savidge GF. The identification and classification of 41 novel mutations in the factor VIII gene (F8C). Hum Mut 2002;19:274-8.
    • (2002) Hum Mut , vol.19 , pp. 274-278
    • Cutler, J.A.1    Mitchell, M.J.2    Smith, M.P.3    Savidge, G.F.4
  • 10
    • 0036389873 scopus 로고    scopus 로고
    • High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutation and genotype-phenotype correlation
    • Citron M, Godmilow L, Ganguly T, Ganguly A. High throughput mutation screening of the factor VIII gene (F8C) in hemophilia A: 37 novel mutation and genotype-phenotype correlation. Hum Mut 2002;20:267-74.
    • (2002) Hum Mut , vol.20 , pp. 267-274
    • Citron, M.1    Godmilow, L.2    Ganguly, T.3    Ganguly, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.