The factor VII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK

被引:21
作者
Cumming, AM [1 ]
机构
[1] Manchester Royal Infirm, Mol Diagnost Ctr, Manchester M13 9WL, Lancs, England
关键词
D O I
10.1111/j.1538-7836.2004.0562i.x
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:205 / 206
页数:2
相关论文
共 7 条
[1]   FACTOR-VIII GENE INVERSIONS IN SEVERE HEMOPHILIA-A - RESULTS OF AN INTERNATIONAL CONSORTIUM STUDY [J].
ANTONARAKIS, SE ;
ROSSITER, JP ;
YOUNG, M ;
HORST, J ;
DEMOERLOOSE, P ;
SOMMER, SS ;
KETTERLING, RP ;
KAZAZIAN, HH ;
NEGRIER, C ;
VINCIGUERRA, C ;
GITSCHIER, J ;
GOOSSENS, M ;
GIRODON, E ;
GHANEM, N ;
PLASSA, F ;
LAVERGNE, JM ;
VIDAUD, M ;
COSTA, JM ;
LAURIAN, Y ;
LIN, SW ;
LIN, SR ;
SHEN, MC ;
LILLICRAP, D ;
TAYLOR, SAM ;
WINDSOR, S ;
VALLEIX, SV ;
NAFA, K ;
SULTAN, Y ;
DELPECH, M ;
VNENCAKJONES, CL ;
PHILLIPS, JA ;
LJUNG, RCR ;
KOUMBARELIS, E ;
GIALERAKI, A ;
MANDALAKI, T ;
JENKINS, PV ;
COLLINS, PW ;
PASI, KJ ;
GOODEVE, A ;
PEAKE, I ;
PRESTON, FE ;
SCHWARTZ, M ;
SCHEIBEL, E ;
INGERSLEV, J ;
COOPER, DN ;
MILLAR, DS ;
KAKKAR, VV ;
GIANNELLI, F ;
NAYLOR, JA ;
TIZZANO, EF .
BLOOD, 1995, 86 (06) :2206-2212
[2]   Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A [J].
Bagnall, RD ;
Waseem, N ;
Green, PM ;
Giannelli, F .
BLOOD, 2002, 99 (01) :168-174
[3]   Two chimaeric transcription units result from an inversion breaking intron 1 of the factor VIII gene and a region reportedly affected by reciprocal translocations in T-cell leukaemia [J].
Brinke, A ;
Tagliavacca, L ;
Naylor, J ;
Green, P ;
Giangrande, P ;
Giannelli, F .
HUMAN MOLECULAR GENETICS, 1996, 5 (12) :1945-1951
[4]  
HABART D, 2003, J THROMB HAEMOST S
[5]   INVERSIONS DISRUPTING THE FACTOR-VIII GENE ARE A COMMON-CAUSE OF SEVERE HEMOPHILIA-A [J].
LAKICH, D ;
KAZAZIAN, HH ;
ANTONARAKIS, SE ;
GITSCHIER, J .
NATURE GENETICS, 1993, 5 (03) :236-241
[6]  
LARI GR, 2003, J THROMB HAEMOST S
[7]  
SALVIATO R, 2003, J THROMB HAEMOST S