A missense mutation in gamma-glutamyl carboxylase gene causes combined deficiency of vitamin K dependent blood coagulation factors

被引：0
|
作者：
SanchezVega, B
Brenner, B
Wu, SM
Lanir, N
Montejo, JM
Stafford, DW
Solera, J
机构：
[1] HOSP LA PAZ, U MOL GENET, MADRID, SPAIN
[2] RAMBAM MED CTR, U THROMB & HEMOSTAS, HAIFA, ISRAEL
[3] UNIV N CAROLINA, DEPT BIOL, CHAPEL HILL, NC USA
来源：
THROMBOSIS AND HAEMOSTASIS | 1997年
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：O1612 / O1612
页数：1
相关论文
共 50 条
  • [31] Tissue-type specific anti-cancer effects and vitamin K-dependent gamma-glutamyl carboxylase activity of vitamin K compounds
    Nakagawa, K
    Mizuguchi, Y
    Murakami, A
    Okano, T
    BONE, 2005, 36 : S221 - S221
  • [32] PROPERTIES AND REGULATION OF THE MICROSOMAL VITAMIN-K-DEPENDENT GAMMA GLUTAMYL CARBOXYLASE
    SUTTIE, JW
    FASEB JOURNAL, 1988, 2 (04): : A700 - A700
  • [33] Characterization of a naturally occurring mutant of γ-glutamyl carboxylase found in a patient with deficiencies of vitamin K-dependent blood coagulation factors.
    Mutucumarana, VP
    Jin, DY
    Stanley, TB
    Brenner, B
    Solera, J
    Stafford, DW
    Wu, SM
    BLOOD, 1998, 92 (10) : 354A - 354A
  • [34] CONGENITAL DEFICIENCY OF ALL VITAMIN-K-DEPENDENT BLOOD-COAGULATION FACTORS DUE TO A DEFECTIVE VITAMIN-K-DEPENDENT CARBOXYLASE IN DEVON REX CATS
    SOUTE, BAM
    ULRICH, MMW
    WATSON, ADJ
    MADDISON, JE
    EBBERINK, RHM
    VERMEER, C
    THROMBOSIS AND HAEMOSTASIS, 1992, 68 (05) : 521 - 525
  • [35] Vitamin K-Dependent Coagulation Factors Deficiency
    Brenner, Benjamin
    Kuperman, Amir A.
    Watzka, Matthias
    Oldenburg, Johannes
    SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2009, 35 (04): : 439 - 446
  • [36] Glutamyl substrate-induced exposure of a cysteine residue in the gamma-glutamyl carboxylase is critical for epoxidation of vitamin K hydroquinone.
    Bouchard, BA
    Furie, B
    Walsh, CT
    Furie, BC
    BLOOD, 1997, 90 (10) : 1285 - 1285
  • [37] AN APPROACH TO TRAPPING GAMMA-GLUTAMYL RADICAL INTERMEDIATES PROPOSED FOR VITAMIN-K DEPENDENT CARBOXYLASE - ALPHA,BETA-METHYLENEGLUTAMIC ACID
    SLAMA, JT
    SATSANGI, RK
    SIMMONS, A
    LYNCH, V
    BOLGER, RE
    SUTTIE, J
    JOURNAL OF MEDICINAL CHEMISTRY, 1990, 33 (02) : 824 - 832
  • [38] Tissue-specific expression of vitamin K-dependent gamma-glutamyl carboxylase during embryogenesis: A developmentally regulated enzyme.
    Roth, DA
    Schapiro, B
    VelazquezEstades, LJ
    BLOOD, 1997, 90 (10) : 1286 - 1286
  • [39] A NEW CASE OF COMBINED DEFICIENCY OF VITAMIN-K DEPENDENT COAGULATION-FACTORS
    PECHLANER, C
    VOGEL, W
    ERHART, R
    PUMPEL, E
    KUNZ, F
    THROMBOSIS AND HAEMOSTASIS, 1992, 68 (05) : 617 - 617
  • [40] Congenital vitamin K dependent coagulation factor deficiency associated with a 14 base deletion within intron 1 of the gamma carboxylase gene.
    Stirling, D
    Ludlam, CA
    Thomas, A
    BRITISH JOURNAL OF HAEMATOLOGY, 1999, 105 : 27 - 27
12345