ASSOCIATION OF 2 NOVEL INTRON MUTATIONS WITH FAMILIAL TYPE-I PROTEIN-C DEFICIENCY

被引：0
|
作者：
TOMCZAK, JA
BROXSON, EH
MARLAR, RA
LONG, GL
机构：
[1] UNIV VERMONT,DEPT BIOCHEM,BURLINGTON,VT 05405
[2] USAF,MED CTR,WRIGHT PATTERSON AFB,OH 45433
[3] UNIV COLORADO,DEPT PEDIAT,DENVER,CO 80202
[4] VET ADM MED CTR,DENVER,CO 80220
来源：
THROMBOSIS AND HAEMOSTASIS | 1993年 / 69卷 / 06期
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：721 / 721
页数：1
相关论文
共 50 条
  • [41] GENETIC-DEFECTS OF PROTEIN-C DEFICIENCY OF CHINESE ORIGIN, INCLUDING 4 NOVEL MUTATIONS
    TSAY, W
    SHEN, MC
    THROMBOSIS AND HAEMOSTASIS, 1995, 73 (06) : 1255 - 1255
  • [42] ASSOCIATION OF HEREDITARY DYSFIBRINOGENEMIA WITH PROTEIN-C DEFICIENCY IN 2 PATIENTS WITH THROMBOTIC TENDENCY
    GANDRILLE, S
    PRIOLLET, P
    CAPRON, L
    RONCATO, M
    FIESSINGER, JN
    AIACH, M
    THROMBOSIS AND HAEMOSTASIS, 1987, 58 (01) : 411 - 411
  • [43] FUNCTIONAL PROTEIN-C DEFICIENCY (TYPE-II)
    PABINGER, I
    STOFFELS, U
    LECHNER, K
    NIESSNER, H
    HAEMOSTASIS, 1985, 15 (01) : 83 - 83
  • [44] NEONATAL VENOUS THROMBOSIS AND FAMILIAL PROTEIN-C DEFICIENCY - A DIFFICULT DIAGNOSIS
    METTEY, R
    ROSOLACCI, MN
    GAGNADOUX, MF
    BOINOT, C
    FISHER, AM
    BERTHIER, M
    VIDAL, MP
    ANNALES DE PEDIATRIE, 1989, 36 (05): : 343 - 344
  • [45] HOMOZYGOUS PROTEIN-C DEFICIENCY IN 2 SIBLINGS
    PETRINI, P
    SEGNESTAM, K
    EKELUND, H
    EGBERG, N
    PEDIATRIC HEMATOLOGY AND ONCOLOGY, 1990, 7 (02) : 165 - 175
  • [46] Identification of seven novel mutations in the myosin binding protein-C gene that cause familial hypertrophic cardiomyopathy
    Anan, R
    Niimura, H
    Tsutsui, M
    Tei, C
    CIRCULATION, 2001, 104 (17) : 684 - 684
  • [47] PROTEIN-C DEFICIENCY IN 2 AUSTRIAN FAMILIES
    PABINGERFASCHING, I
    BERTINA, RM
    LECHNER, K
    NIESSNER, H
    KORNINGER, C
    THROMBOSIS AND HAEMOSTASIS, 1983, 50 (04) : 810 - 813
  • [48] Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2
    Metherell, LA
    Cooray, S
    Huebner, A
    Ruschendorf, F
    Naville, D
    Begeot, M
    Clark, AJL
    ENDOCRINE RESEARCH, 2004, 30 (04) : 889 - 890
  • [49] PROTEIN-S DEFICIENCY TYPE-I - IDENTIFICATION OF POINT MUTATIONS IN 9 OF 10 FAMILIES
    MUSTAFA, S
    PABINGER, I
    MANNHALTER, C
    BLOOD, 1995, 86 (09) : 3444 - 3451
  • [50] MOLECULAR-BASIS FOR TYPE-I ANTITHROMBIN-III DEFICIENCY - 4 NOVEL MUTATIONS
    EMMERICH, J
    CHADEUF, G
    ALHENCGELAS, M
    GOUAULTHEILMAN, M
    TOULON, P
    FIESSINGER, JN
    AIACH, M
    THROMBOSIS AND HAEMOSTASIS, 1993, 69 (06) : 1138 - 1138
12345