Factor V C1149G and 5609-10INSCGTGGTT causing factor V deficiency: Molecular characterization by in-vitro expression

被引：8

作者：

Cai, Xiao-Hong

Wang, Xue-Feng

Ding, Qiu-Lan

Fu, Qi-Hua

Wang, Hong-Li

机构：

[1] Shanghai Jiao Tong Univ, Ruijin Hosp, Sch Med, Shanghai Inst Hematol,State Key Lab Med Genom, Shanghai 200030, Peoples R China

[2] Shanghai Jiao Tong Univ, Ruijin Hosp, Sch Med, Blood Transfus Dept, Shanghai 200030, Peoples R China

[3] Shanghai Blood Ctr, Shanghai Inst Blood Transfus, Shanghai, Peoples R China

来源：

THROMBOSIS AND HAEMOSTASIS | 2007年 / 98卷 / 03期

关键词：

D O I：

10.1160/TH07-01-0041

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：683 / 685

页数：3

共 15 条

[1]

BUSCA R, 1995, J LIPID RES, V36, P939

[2] The mutation Gly(142)->Glu in human lipoprotein lipase produces a missorted protein that is diverted to lysosomes [J].

Busca, R ;

Martinez, M ;

Vilella, E ;

Pognonec, P ;

Deeb, S ;

Auwerx, J ;

Reina, M ;

Vilaro, S .

JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (04) :2139-2146

[3] Female hemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII [J].

Cai, X. -H. ;

Wang, X. -F. ;

Dai, J. ;

Fang, Y. ;

Ding, Q. -L. ;

Xie, F. ;

Wang, H. -L. .

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2006, 4 (09) :1969-1974

[4] Gly392Cys missense mutation in the A2 domain of factor V causing severe factor V deficiency: molecular characterization by expression of the recombinant protein [J].

Chen, TY ;

Lin, TM ;

Chen, HY ;

Wu, CL ;

Tsao, CJ .

THROMBOSIS AND HAEMOSTASIS, 2005, 93 (03) :614-615

[5]

Duga S, 2003, BLOOD, V102, p306A

[6] Arg2074Cys missense mutation in the C2 domain of factor V causing moderately severe factor V deficiency: molecular characterization by expression of the recombinant protein [J].

Duga, S ;

Montefusco, MC ;

Asselta, R ;

Malcovati, M ;

Peyvandi, F ;

Santagostino, E ;

Mannucci, PM ;

Tenchini, ML .

BLOOD, 2003, 101 (01) :173-177

[7] Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion [J].

Enjolras, N ;

Plantier, JL ;

Rodriguez, MH ;

Rea, M ;

Attali, O ;

Vinciguerra, C ;

Negrier, C .

JOURNAL OF THROMBOSIS AND HAEMOSTASIS, 2004, 2 (07) :1143-1154

[8]

Fitches AC, 2001, THROMB HAEMOSTASIS, V86, P1023

[9]

GANDRILLE S, 1995, BLOOD, V86, P2598

[10] Clinical and molecular characterization of 6 patients affected by severe deficiency of coagulation factor V: broadening of the mutational spectrum of factor V gene and in vitro analysis of the newly identified missense mutations [J].