Severe factor XI deficiency in the Abruzzo region of Italy is associated to different FXI gene mutations

被引:4
作者
Castaman, Giancarlo [1 ,2 ]
Giacomelli, Sofia H. [1 ,2 ]
Dragani, Alfredo [3 ]
Iuliani, Ornella [3 ]
Duga, Stefano [4 ]
Rodeghiero, Francesco [1 ,2 ]
机构
[1] San Bortolo Hosp, Dept Hematol, Vicenza, Italy
[2] San Bortolo Hosp, Hemophilia & Thrombosis Ctr, Vicenza, Italy
[3] Univ Pescara, Hemophilia Ctr, Pescara, Italy
[4] Univ Milan, Dept Biol & Genet Med Sci, Milan, Italy
关键词
D O I
10.3324/haematol.12540
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:957 / 958
页数:2
相关论文
共 12 条
[1]   A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency [J].
Bolton-Maggs, PHB ;
Peretz, H ;
Butler, R ;
Mountford, R ;
Keeney, S ;
Zacharski, L ;
Zivelin, A ;
Seligsohn, U .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2004, 2 (06) :918-924
[2]   INHERITANCE AND BLEEDING IN FACTOR-XI DEFICIENCY [J].
BOLTONMAGGS, PHB ;
WANYIN, BY ;
MCCRAW, AH ;
SLACK, J ;
KERNOFF, PBA .
BRITISH JOURNAL OF HAEMATOLOGY, 1988, 69 (04) :521-528
[3]   Factor XI deficiency - from molecular genetics to clinical management [J].
O'Connell, NM .
BLOOD COAGULATION & FIBRINOLYSIS, 2003, 14 :S59-S64
[4]  
Peyvandi F, 2002, HAEMATOLOGICA, V87, P512
[5]   Molecular basis of severe factor XI deficiency in seven families from the west of France.: Seven novel mutations, including an ancient Q88X mutation [J].
Quélin, F ;
Trossaërt, A ;
Sigaud, M ;
Mazancourt, PDE ;
Fressinaud, E .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2004, 2 (01) :71-76
[6]  
RAGNI MV, 1985, BLOOD, V65, P719
[7]  
ROSENTHAL RL, 1953, P SOC EXP BIOL MED, V82, P171
[8]   Variable bleeding manifestations characterize different types of surgery in patients with severe factor XI deficiency enabling parsimonious use of replacement therapy [J].
Salomon, O. ;
Steinberg, D. M. ;
Seligshon, U. .
HAEMOPHILIA, 2006, 12 (05) :490-493
[9]  
Seligsohn U, 2005, TXB HAEMOPHILIA, P321
[10]   ONE OF THE 2 COMMON MUTATIONS CAUSING FACTOR-XI DEFICIENCY IN ASHKENAZI JEWS (TYPE-II) IS ALSO PREVALENT IN IRAQI JEWS, WHO REPRESENT THE ANCIENT GENE POOL OF JEWS [J].
SHPILBERG, O ;
PERETZ, H ;
ZIVELIN, A ;
YATUV, R ;
CHETRIT, A ;
KULKA, T ;
STERN, C ;
WEISS, E ;
SELIGSOHN, U .
BLOOD, 1995, 85 (02) :429-432