Clinical utility gene card for: Glanzmann thrombasthenia

被引:21
作者
Fiore, Mathieu [1 ]
Nurden, Alan T. [1 ]
Nurden, Paquita [1 ]
Seligsohn, Uri [2 ]
机构
[1] Hop Xavier Arnozan, Ctr Reference Pathol Plaquettaires, F-33600 Pessac, France
[2] Tel Aviv Univ, Tel Hashomer & Sackler Fac Med, Chaim Sheba Med Ctr, Amalia Biron Res Inst Thrombosis & Haemostasis, IL-69978 Tel Aviv, Israel
关键词
INHERITED PLATELET DISORDERS; FRENCH GYPSY MUTATION; PRENATAL-DIAGNOSIS; ALPHA-IIB-BETA-3; MANAGEMENT;
D O I
10.1038/ejhg.2012.151
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
[No abstract available]
引用
收藏
页码:1101 / +
页数:4
相关论文
共 23 条
[1]  
AWIDI AS, 1983, SCAND J HAEMATOL, V30, P218
[2]   Acquired thrombasthenia due to GPIIbIIIa platelet autoantibodies in a 4-yr-old child [J].
Bloor, AJC ;
Smith, GA ;
Jaswon, M ;
Parker, NE ;
Ouwehand, WH ;
Liesner, R .
EUROPEAN JOURNAL OF HAEMATOLOGY, 2006, 76 (01) :89-90
[3]   A review of inherited platelet disorders with guidelines for their management on behalf of the UKHCDO [J].
Bolton-Maggs, Paula H. B. ;
Chalmers, Elizabeth A. ;
Collins, Peter W. ;
Harrison, Paul ;
Kitchen, Stephen ;
Liesner, Ri J. ;
Minford, Adrian ;
Mumford, Andrew D. ;
Parapia, Liakat A. ;
Perry, David J. ;
Watson, Steve P. ;
Wilde, Jonathan T. ;
Williams, Michael D. .
BRITISH JOURNAL OF HAEMATOLOGY, 2006, 135 (05) :603-633
[4]  
CHEN Y, 1989, THROMB HAEMOSTASIS, V62, P176
[5]   The GPIIb/IIIa (integrin αIIbβ3) odyssey:: a technology-driven saga of a receptor with twists, turns, and even a bend [J].
Coller, Barry S. ;
Shattil, Sanford J. .
BLOOD, 2008, 112 (08) :3011-3025
[6]   Glanzmann's thrombasthenia (defective platelet integrin αIIb-β3: proposals for management between evidence and open issues [J].
Di Minno, Giovanni ;
Coppola, Antonio ;
Di Minno, Matteo Nicola Dario ;
Poon, Man-Chiu .
THROMBOSIS AND HAEMOSTASIS, 2009, 102 (06) :1157-1164
[7]   Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients [J].
Fiore, M. ;
Firah, N. ;
Pillois, X. ;
Nurden, P. ;
Heilig, R. ;
Nurden, A. T. .
HAEMOPHILIA, 2012, 18 (03) :e201-e209
[8]   Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families [J].
Fiore, Mathieu ;
Pillois, Xavier ;
Nurden, Paquita ;
Nurden, Alan T. ;
Austerlitz, Frederic .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2011, 19 (09) :981-987
[9]   Rapid diagnosis of the French gypsy mutation in Glanzmann thrombasthenia using high-resolution melting analysis [J].
Fiore, Mathieu ;
Nurden, Alan T. ;
Vinciguerra, Christine ;
Nurden, Paquita ;
Pillois, Xavier .
THROMBOSIS AND HAEMOSTASIS, 2010, 104 (05) :1076-1077
[10]   Prenatal diagnosis of glanzmann thrombasthenia using the polymorphic markers BRCA1 and THRA1 on chromosome 17 [J].
French, DL ;
Coller, BS ;
Usher, S ;
Berkowitz, R ;
Eng, C ;
Seligsohn, U ;
Peretz, H .
BRITISH JOURNAL OF HAEMATOLOGY, 1998, 102 (02) :582-587