Clinical and biological features of 3 cases of hypofibrinogenemia associated with three different mutations (γAla341Thr, BβTyr326Cys and AαAsp496Asn)

被引:10
作者
Hanss, Michel
Chevreaud, Caroline
French, Patrick
Negrier, Claude
de Mazancourt, Philippe
机构
[1] Grp Hosp Est, Hematol Lab, Bron, France
[2] Hop Edouard Herriot, Serv Malad Sang, Lyon, France
[3] Hop Edouard Herriot, Hematol Lab, Lyon, France
关键词
D O I
10.1160/TH07-01-0075
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:689 / 691
页数:3
相关论文
共 11 条
[1]   Hypofibrinogenaemia associated with common γ82Ala→Gly mutation is not mediated by altered mRNA splicing [J].
Brennan, Stephen O. ;
Homer, Vivienne M. ;
Davis, Ryan L. ;
Meyer, Michael ;
George, Peter M. .
THROMBOSIS AND HAEMOSTASIS, 2006, 96 (04) :535-537
[2]   Hypofibrinogenaemia associated with a novel heterozygous γ289 Ala→Wal substitution (fibrinogen Dorfen) [J].
Dear, A ;
Brennan, SO ;
Dempfle, CE ;
Kirschstein, W ;
George, PM .
THROMBOSIS AND HAEMOSTASIS, 2004, 92 (06) :1291-1295
[3]   Fibrinogen Mannheim II:: a novel γ307 His → Tyr substitution in the γD domain causes hypofibrinogenemia [J].
Dear, A ;
Dempfle, CE ;
Brennan, SO ;
Kirschstein, W ;
George, PM .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2004, 2 (12) :2194-2199
[4]   Four cases of hypofibrinogenemia associated with four novel mutations [J].
Hanss, M ;
Ffrench, P ;
Vinciguerra, C ;
Bertrand, MA ;
de Mazancourt, P .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2005, 3 (10) :2347-2349
[5]   The molecular mechanisms of congenital hypofibrinogenaemia [J].
Maghzal, GJ ;
Brennan, SO ;
Homer, VM ;
George, PM .
CELLULAR AND MOLECULAR LIFE SCIENCES, 2004, 61 (12) :1427-1438
[6]   Fibrinogen and fibrin structure and functions [J].
Mosesson, MW .
JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2005, 3 (08) :1894-1904
[7]   Fibrinogen Darlinghurst: Hypofibrinogenaemia caused by a W253G mutation in the gamma chain in a patient with both bleeding and thrombotic complications [J].
Sheen, Campbell R. ;
Low, Joyce ;
Joseph, Joanne ;
Kotlyar, Eugene ;
George, Peter M. ;
Brennan, Stephen O. .
THROMBOSIS AND HAEMOSTASIS, 2006, 96 (05) :685-687
[8]   Fibrinogen Montreal:: A novel missense mutation (Aα D496N) associated with hypofibrinogenaemia [J].
Sheen, Campbell R. ;
Brennan, Stephen O. ;
Jabado, Nada ;
George, Peter M. .
THROMBOSIS AND HAEMOSTASIS, 2006, 96 (02) :231-232
[9]  
VU D, 2005, THROMB HAEMOSTASIS, V93, P1196
[10]  
YU S, 1984, J BIOL CHEM, V259, P574