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Volumn 16, Issue 5, 2010, Pages 786-790

F8 mRNA studies in haemophilia A patients with different splice site mutations

Author keywords

F8 gene mutation; Factor VIII; Haemophilia A; MRNA analysis; Splicing mutations

Indexed keywords

AMINO ACID; BLOOD CLOTTING FACTOR 8; MESSENGER RNA; PROTEIN;

EID: 77955944952     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02250.x     Document Type: Article
Times cited : (17)

References (10)
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  • 2
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    • A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25
    • Gau JP, Hsu HC, Chau WK, Ho CH. A novel splicing acceptor mutation of the factor VIII gene producing skipping of exon 25. Ann Hematol 2003, 82:175-7.
    • (2003) Ann Hematol , vol.82 , pp. 175-177
    • Gau, J.P.1    Hsu, H.C.2    Chau, W.K.3    Ho, C.H.4
  • 3
    • 19544372311 scopus 로고    scopus 로고
    • Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene
    • El-Maarri O, Herbiniaux U, Graw J. Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene. J Thromb Haemost 2005, 3:332-9.
    • (2005) J Thromb Haemost , vol.3 , pp. 332-339
    • El-Maarri, O.1    Herbiniaux, U.2    Graw, J.3
  • 4
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    • Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A
    • Castaman G, Mancuso ME, Giacomelli SH. Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. J Thromb Haemost 2009, 7:1824-31.
    • (2009) J Thromb Haemost , vol.7 , pp. 1824-1831
    • Castaman, G.1    Mancuso, M.E.2    Giacomelli, S.H.3
  • 6
    • 34248524758 scopus 로고    scopus 로고
    • Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene
    • Castaman G, Giacomelli SH, Ghiotto R. Spectrum of mutations in Albanian patients with haemophilia A: identification of ten novel mutations in the factor VIII gene. Haemophilia 2007, 13:311-6.
    • (2007) Haemophilia , vol.13 , pp. 311-316
    • Castaman, G.1    Giacomelli, S.H.2    Ghiotto, R.3
  • 7
    • 41849103098 scopus 로고    scopus 로고
    • Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in Southern Italy
    • Santacroce R, Santoro R, Sessa F. Screening of mutations of hemophilia A in 40 Italian patients: a novel G-to-A mutation in intron 10 of the F8 gene as a putative cause of mild hemophilia A in Southern Italy. Blood Coagul Fibrinolysis 2008, 19:197-202.
    • (2008) Blood Coagul Fibrinolysis , vol.19 , pp. 197-202
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    • Effect of the F8 mutation c.1538-2A>T on pre-mRNA splicing
    • Smith MP, Laurie AD. Effect of the F8 mutation c.1538-2A>T on pre-mRNA splicing. Haemophilia 2009, 15:1348-50.
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  • 10
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    • Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A
    • Santacroce R, Acquila M, Belvini D. Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. J Hum Genet 2008, 53:275-84.
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    • Santacroce, R.1    Acquila, M.2    Belvini, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.