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Volumn 8, Issue 12, 2010, Pages 2693-2695

Another step towards understanding hemophilia A molecular pathogenesis

Author keywords

[No Author keywords available]

Indexed keywords

COPY NUMBER VARIATION; DISEASE SEVERITY; EXON; GENE DUPLICATION; HEMOPHILIA A; HUMAN; NOTE; PATHOGENESIS; PRIORITY JOURNAL; SOUTHERN BLOTTING;

EID: 78650033580     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2010.04071.x     Document Type: Note
Times cited : (1)

References (17)
  • 2
    • 0033378313 scopus 로고    scopus 로고
    • Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191-bp cryptic exon in two haemophilia A patients
    • Bagnall RD, Waseem NH, Green PM, Colvin B, Lee C, Giannelli F. Creation of a novel donor splice site in intron 1 of the factor VIII gene leads to activation of a 191-bp cryptic exon in two haemophilia A patients. Br J Haematol 1999; 107: 766-71.
    • (1999) Br J Haematol , vol.107 , pp. 766-771
    • Bagnall, R.D.1    Waseem, N.H.2    Green, P.M.3    Colvin, B.4    Lee, C.5    Giannelli, F.6
  • 3
    • 0025424502 scopus 로고
    • Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A
    • Murru S, Casula L, Pecorara M, Mori P, Cao A, Pirastu M. Illegitimate recombination produced a duplication within the FVIII gene in a patient with mild hemophilia A. Genomics 1990; 7: 115-8.
    • (1990) Genomics , vol.7 , pp. 115-118
    • Murru, S.1    Casula, L.2    Pecorara, M.3    Mori, P.4    Cao, A.5    Pirastu, M.6
  • 4
    • 3042527394 scopus 로고    scopus 로고
    • Duplication of exon 13 causes one-third of the cases of mild hemophilia A in northern Italy
    • Acquila M, Pasino M, Lanza T, Bottini F, Molinari AC, Bicocchi MP. Duplication of exon 13 causes one-third of the cases of mild hemophilia A in northern Italy. Haematologica 2004; 89: 758-9.
    • (2004) Haematologica , vol.89 , pp. 758-759
    • Acquila, M.1    Pasino, M.2    Lanza, T.3    Bottini, F.4    Molinari, A.C.5    Bicocchi, M.P.6
  • 6
    • 78650028453 scopus 로고    scopus 로고
    • MRC-Holland., MRC-Holland MLPA homepage. ; Accessed 22 August 2010.
    • MRC-Holland. MRC-Holland MLPA homepage. ; Accessed 22 August 2010.
  • 8
    • 78650010630 scopus 로고    scopus 로고
    • Characterisation of duplication breakpoints in the factor VIII gene
    • Zimmerman MA, Oldenburg J, Müller CR, Rost S. Characterisation of duplication breakpoints in the factor VIII gene. J Thromb Haemost 2010; 8: 2696-704.
    • (2010) J Thromb Haemost , vol.8 , pp. 2696-2704
    • Zimmerman, M.A.1    Oldenburg, J.2    Müller, C.R.3    Rost, S.4
  • 12
    • 59649126675 scopus 로고    scopus 로고
    • Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification
    • Casana P, Haya S, Cid AR, Oltra S, Martinez F, Cabrera N, Aznar JA. Identification of deletion carriers in hemophilia B: quantitative real-time polymerase chain reaction or multiple ligation probe amplification. Transl Res 2009; 153: 114-7.
    • (2009) Transl Res , vol.153 , pp. 114-117
    • Casana, P.1    Haya, S.2    Cid, A.R.3    Oltra, S.4    Martinez, F.5    Cabrera, N.6    Aznar, J.A.7
  • 17
    • 51249105747 scopus 로고    scopus 로고
    • Haemophilia A mutations in the UK: results of screening one-third of the population
    • Green PM, Bagnall RD, Waseem NH, Giannelli F. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol 2008; 143: 115-28.
    • (2008) Br J Haematol , vol.143 , pp. 115-128
    • Green, P.M.1    Bagnall, R.D.2    Waseem, N.H.3    Giannelli, F.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.