The elusive pathogenesis of von Willebrand disease Vicenza

被引:17
作者
Castaman, G [1 ]
Rodeghiero, F [1 ]
Mannucci, PM [1 ]
机构
[1] San Bortolo Hosp, Dept Hematol, Vicenza, Italy
关键词
D O I
10.1182/blood.V99.11.4243
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:4243 / 4244
页数:2
相关论文
共 7 条
[1]   Type I von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers:: a possible general mechanism for dominant mutations of oligomeric proteins [J].
Bodó, I ;
Katsumi, A ;
Tuley, EA ;
Eikenboom, JCJ ;
Dong, ZY ;
Sadler, JE .
BLOOD, 2001, 98 (10) :2973-2979
[2]   Reduced von Willebrand factor survival in type Vicenza von Willebrand disease [J].
Casonato, A ;
Pontara, E ;
Sartorello, F ;
Cattini, MG ;
Sartori, MT ;
Padrini, R ;
Girolami, A .
BLOOD, 2002, 99 (01) :180-184
[3]   Autosomal dominant type 1 von Willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect [J].
Castaman, G ;
Eikenboom, JCJ ;
Missiaglia, E ;
Rodeghiero, F .
BRITISH JOURNAL OF HAEMATOLOGY, 2000, 108 (04) :876-879
[4]  
Castaman G, 2000, THROMB HAEMOSTASIS, V84, P350
[5]  
Castaman G, 2001, THROMB HAEMOSTASIS, V86, P804
[6]  
MANNUCCI PM, 1988, BLOOD, V71, P65
[7]  
Schneppenheim R, 2000, THROMB HAEMOSTASIS, V83, P136