1Keeney S, Mitchell M, Goodeve A. The molecular analy- sis of haemophilia A: a guideline from the UK haemophilia centre doctors' organization haemophilia ge- netics laboratory network [J]. Haemophilia, 2005, 11 (4): 387-397.
2Mitchell M, Keeney S, Goodeve A. The molecular analy- sis of haemophilia B: a guideline from the UK haemophilia centre doctors' organization haemophilia ge- netics laboratory network [J]. Haemophilia, 2005, 11 (4): 398-404.
3Gitsebier J, Wood WI, Goralka TM, et al. Characteriza- tion of the human factor V gene [J]. Nature, 1984, 312 (5992): 326-330.
4Yoshitake S, Sehach BG, Foster DC, et al. Nucleotide se- quence of the gene for human factor IX (antihemophilic factor B) [J]. Biochemistry, 1985, 24(14): 3736-3750.
5Bolton-Maggs PH, Pasi KJ. Haemophilias A and B [J]. Lancet, 2003, 361(9371): 1801-1809.
6Gouw SC, van den Berg HM, Oldenburg J, et al. F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis [J]. Blood, 2012, 119(12): 2922-2934.
7Harraway JR, Smith MP, George PM. A highly informa- tive, multiplexed assay for the indirect detection of hemophilia A using five-linked tnicrosatellites [J]. J Thromb Haemost, 2006, 4(3): 587-590.
8Bowen DJ. Haemophilia A and haemophilia B: molecular insights [J]. Mol Pathol, 2002, 55(2): 127-144.
10Zimmermann MA, Oldenburg J, Mailer CR, et al. Char- acterization of duplication breakpoints in the factor V gene [J]. J Thromb Haemost, 2010, 8(12): 2696-2704.
1Naylor J, Brinke A, Hassock S, et al. Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversionsE]]. Hum Mol (;enet, 1993,2 (11) =1773-1778.
2Bagnall RD,Waseem N,Green PM,et al. Recurrent inversion breaking intron 1 of the factor : gene is a frequent cause of severe hemopilia A [ J ]. Blood, 2002,99( 1 ) : 168 -174.
3Tizzano EF,Cornet M, Baiget M. Inversion of intron 1 of the factor ": gene for direct molecular diagnosis of hemophilia A [J]. Haematologica, 2003,88 ( 1 ) : 118- 120.
4Lakich D,Kazaziahn HH Jr,Antonarakis SE,et al. Inversions disrupting the factor & gene are a common cause of severe haemophilia A[J]. Nat Genet,1993,5(3) =236- 241.
