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
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] New Mutations in Low-Density Lipoprotein Receptor Gene in Familial Hypercholesterolemia Patients from Petrozavodsk
    Komarova, T. Yu.
    Golovina, A. S.
    Grudinina, N. A.
    Zakharova, F. M.
    Korneva, V. A.
    Lipovetsky, B. M.
    Serebrenitskaya, M. P.
    Konstantinov, V. O.
    Vasilyev, V. B.
    Mandelshtam, M. Yu.
    RUSSIAN JOURNAL OF GENETICS, 2013, 49 (06) : 673 - 676
  • [42] 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
  • [43] 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
  • [44] 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
  • [45] 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
  • [46] FAMILIAL HYPERCHOLESTEROLEMIA - MUTATIONS IN THE GENE FOR THE LOW-DENSITY-LIPOPROTEIN RECEPTOR
    SOUTAR, AK
    MOLECULAR MEDICINE TODAY, 1995, 1 (02): : 90 - 97
  • [47] 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
  • [48] Low-density lipoprotein apheresis in homozygous familial hypercholesterolemia
    Mora, C
    Teruel, JL
    Navarro, JF
    AMERICAN JOURNAL OF CARDIOLOGY, 2001, 88 (02): : 202 - 203
  • [49] ABNORMAL LOW-DENSITY LIPOPROTEIN COMPOSITION IN FAMILIAL HYPERCHOLESTEROLEMIA
    JADHAV, AV
    THOMPSON, GR
    CLINICAL SCIENCE AND MOLECULAR MEDICINE, 1977, 52 (02): : P18 - P19
  • [50] 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