Mutation of low density lipoprotein receptor gene is found only in one third of the patients showing familial tendency of hypercholesterolemia and Achilles tendon xanthoma in Korea

被引：0
|
作者：
Kim, HS [1 ]
Chae, JJ [1 ]
Han, KH [1 ]
Kim, SH [1 ]
Chae, IH [1 ]
Lee, CJ [1 ]
Park, YB [1 ]
机构：
[1] SEOUL NATL UNIV,COLL MED,SEOUL,SOUTH KOREA
来源：
ATHEROSCLEROSIS | 1997年 / 134卷 / 1-2期
关键词：
D O I：
10.1016/S0021-9150(97)89826-7
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：358 / 359
页数：2
相关论文
共 50 条
  • [21] Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients
    Guan, Xiao-xiang
    Li, Ming-fang
    Fan, Le-ming
    Chen, Qi
    Chinese Journal of Medical Genetics, 2003, 20 (02) : 138 - 142
  • [22] 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
  • [23] A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia
    Koivisto, UM
    Kontula, K
    HUMAN MUTATION, 1996, 8 (04) : 326 - 332
  • [24] Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia
    Zakharova, FM
    Damgaard, D
    Mandelshtam, MY
    Golubkov, VI
    Nissen, PH
    Nilsen, GG
    Stenderup, A
    Lipovetsky, BM
    Konstantinov, VO
    Denisenko, AD
    Vasilyev, VB
    Faergeman, O
    BMC MEDICAL GENETICS, 2005, 6
  • [25] Identification of a new mutation in exon 4 of the ion density lipoprotein receptor gene in patients with familial hypercholesterolemia in Spain
    Vallve, JC
    AlonsoVillaverde, C
    Margalef, J
    Ribalta, J
    Masana, L
    ATHEROSCLEROSIS, 1997, 134 (1-2) : 74 - 74
  • [26] New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk
    T. Yu. Komarova
    A. S. Golovina
    N. A. Grudinina
    F. M. Zakharova
    V. A. Korneva
    B. M. Lipovetsky
    M. P. Serebrenitskaya
    V. O. Konstantinov
    V. B. Vasilyev
    M. Yu. Mandelshtam
    Russian Journal of Genetics, 2013, 49 : 673 - 676
  • [27] CHARACTERIZATION OF 3 MUTATIONS OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN ITALIAN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA
    LELLI, N
    GHISELLINI, M
    GUALDI, R
    TIOZZO, R
    CALANDRA, S
    GADDI, A
    CIARROCCHI, A
    ARCA, M
    FAZIO, S
    COVIELLO, DA
    BERTOLINI, S
    ARTERIOSCLEROSIS AND THROMBOSIS, 1991, 11 (02): : 234 - 243
  • [28] 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
  • [29] Very low density lipoprotein receptor gene therapy in a mouse model of familial hypercholesterolemia
    Chan, L
    Kobayashi, K
    DRUGS AFFECTING LIPID METABOLISM: RISK FACTORS AND FUTURE DIRECTIONS, 1996, 10 : 249 - 253
  • [30] Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia
    Hu, Ya-nan
    Wu, Min
    Yu, Hong-ping
    Wu, Qiu-yan
    Chen, Ying
    Zhang, Jian-Hui
    Ruan, Dan-dan
    Zhang, Yan-ping
    Zou, Jing
    Zhang, Li
    Lin, Xin-fu
    Fang, Zhu-ting
    Liao, Li-Sheng
    Lin, Fan
    Li, Hong
    Luo, Jie-Wei
    PLOS ONE, 2024, 19 (10):
12345