3 NOVEL PARTIAL DELETIONS OF THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE IN FAMILIAL HYPERCHOLESTEROLEMIA

被引：0
|
作者：
YAMAKAWA, K
TAKADA, K
YANAGI, H
TSUCHIYA, S
KAWAI, K
NAKAGAWA, S
KAJIYAMA, G
HAMAGUCHI, H
机构：
[1] UNIV TSUKUBA,INST BASIC MED SCI,DEPT HUMAN GENET,SAKURA,IBARAKI 305,JAPAN
[2] TORIDE KYODO HOSP,TORIDE 302,JAPAN
[3] UNIV TSUKUBA,INST COMMUNITY MED,SAKURA,IBARAKI 305,JAPAN
[4] UNIV TSUKUBA,INST CLIN MED,SAKURA,IBARAKI 305,JAPAN
[5] HIROSHIMA UNIV,SCH MED,DEPT INTERNAL MED 1,HIROSHIMA 734,JAPAN
来源：
HUMAN GENETICS | 1989年 / 82卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：317 / 321
页数：5
相关论文
共 50 条
  • [41] First Case Report of Familial Hypercholesterolemia in an Omani Family Due to Novel Mutation in the Low-Density Lipoprotein Receptor Gene
    Al-Hinai, Ali T.
    Al-Abri, Abdulrahim
    Al-Dhuhli, Humoud
    Al-Waili, Khalid
    Al-Sabti, Hilal
    Al-Yaarubi, Saif
    Al-Hashmi, Khamis
    Banerjee, Yajnavalka
    Al-Zakwani, Ibrahim
    Al-Rasadi, Khalid
    ANGIOLOGY, 2013, 64 (04) : 287 - 292
  • [42] Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a Swiss family with severe familial hypercholesterolemia
    Neff, D
    Ruschitzka, F
    Hersberger, M
    Enseleit, F
    Hürlimann, D
    Noll, G
    Lüscher, T
    Hänseler, E
    CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2003, 41 (03) : 266 - 271
  • [43] High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium
    Descamps, O
    Hondekijn, JC
    VanAcker, P
    Deslypere, JP
    Heller, FR
    CLINICAL GENETICS, 1997, 51 (05) : 303 - 308
  • [44] MUTATIONS OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE AND FAMILIAL HYPERCHOLESTEROLEMIA
    SHACHTER, NS
    WEINBERGER, J
    TRENDS IN ENDOCRINOLOGY AND METABOLISM, 1994, 5 (06): : 245 - 249
  • [45] FAMILIAL HYPERCHOLESTEROLEMIA - MUTATIONS IN THE GENE FOR THE LOW-DENSITY-LIPOPROTEIN RECEPTOR
    SOUTAR, AK
    MOLECULAR MEDICINE TODAY, 1995, 1 (02): : 90 - 97
  • [46] Two novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia (FHSiracusa and FHReggio Emilia)
    Garuti, R
    Lelli, N
    Barozzini, M
    Tiozzo, R
    Ghisellini, M
    Simone, ML
    Volti, SL
    Garozzo, R
    Mollica, F
    Vergoni, W
    Bertolini, S
    Calandra, S
    ATHEROSCLEROSIS, 1996, 121 (01) : 105 - 117
  • [47] Low-density lipoprotein apheresis in homozygous familial hypercholesterolemia
    Mora, C
    Teruel, JL
    Navarro, JF
    AMERICAN JOURNAL OF CARDIOLOGY, 2001, 88 (02): : 202 - 203
  • [48] ABNORMAL LOW-DENSITY LIPOPROTEIN COMPOSITION IN FAMILIAL HYPERCHOLESTEROLEMIA
    JADHAV, AV
    THOMPSON, GR
    CLINICAL SCIENCE AND MOLECULAR MEDICINE, 1977, 52 (02): : P18 - P19
  • [49] Low-density lipoprotein apheresis for the treatment of familial hypercholesterolemia
    Khan, T.
    Chandra, K. M.
    Pham, B.
    VALUE IN HEALTH, 2008, 11 (03) : A208 - A209
  • [50] ANALYSIS OF LOW-DENSITY LIPOPROTEIN RECEPTOR MUTATION IN JAPANESE KINDREDS WITH FAMILIAL HYPERCHOLESTEROLEMIA
    FUNAHASHI, T
    MIYAKE, Y
    YAMAMOTO, A
    MATSUZAWA, Y
    KISHINO, B
    JAPANESE CIRCULATION JOURNAL-ENGLISH EDITION, 1988, 52 (09): : 1027 - 1027
12345