Point mutations in the genes of Lipoprotein lipase, hepatic lipase, and insulin receptor as possible susceptibility alleles in familial combined hyperlipidemia

被引:0
|
作者
Jaross, W [1 ]
Gehrisch, S [1 ]
Julius, U [1 ]
Kostka, H [1 ]
Hanefeld, HM [1 ]
机构
[1] TECH UNIV DRESDEN,INST KLIN CHEM,D-8027 DRESDEN,GERMANY
关键词
D O I
10.1016/S0021-9150(97)88223-8
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:25 / 26
页数:2
相关论文
共 48 条
  • [41] Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia
    DeBruin, TWA
    Mailly, F
    VanBarlingen, HHJJ
    Fisher, R
    Cabezas, MC
    Talmud, P
    DallingaThie, GM
    Humphries, SE
    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION, 1996, 26 (08) : 631 - 639
  • [42] Frequency of Low-Density Lipoprotein Receptor Gene Mutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a Clinical Setting
    Civeira, Fernando
    Jarauta, Estibaliz
    Cenarro, Ana
    Garcia-Otin, Angel L.
    Tejedor, Diego
    Zambon, Daniel
    Mallen, Miguel
    Ros, Emilio
    Pocovi, Miguel
    JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2008, 52 (19) : 1546 - 1553
  • [43] C3, hormone-sensitive lipase, and peroxisome proliferator-activated receptor γ expression in adipose tissue of familial combined hyperlipidemia patients
    Ylitalo, K
    Nuotio, I
    Viikari, J
    Auwerx, J
    Vidal, H
    Taskinen, MR
    METABOLISM-CLINICAL AND EXPERIMENTAL, 2002, 51 (05): : 664 - 670
  • [44] Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp(9)->Asn, Tyr(262)->His)
    Rouis, M
    Lohse, P
    Dugi, KA
    Lohse, P
    Beg, OU
    Ronan, R
    Talley, GD
    Brunzell, JD
    SantamarinaFojo, S
    JOURNAL OF LIPID RESEARCH, 1996, 37 (03) : 651 - 661
  • [45] CHARACTERIZATION OF 2 NEW POINT MUTATIONS IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENES OF AN ENGLISH PATIENT WITH HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
    WEBB, JC
    SUN, XM
    PATEL, DD
    MCCARTHY, SN
    KNIGHT, BL
    SOUTAR, AK
    JOURNAL OF LIPID RESEARCH, 1992, 33 (05) : 689 - 698
  • [46] Gender-related association between the -93T→G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia
    Hoffer, MJV
    Bredie, SJH
    Snieder, H
    Reymer, PWA
    Demacker, PNM
    Havekes, LM
    Boomsma, DI
    Stalenhoef, AFH
    Frants, RR
    Kastelein, JJP
    ATHEROSCLEROSIS, 1998, 138 (01) : 91 - 99
  • [47] Gender-related association between the -93T→G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia.
    Frants, RR
    Bredie, SJH
    Snieder, H
    Reymer, PWA
    Demacker, PNM
    Havekes, LM
    Boomsma, DI
    Stalenhoef, AFH
    Kastelein, JP
    Hoffer, MJV
    AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) : A308 - A308
  • [48] VARIATION IN THE GENES ENCODING THE LOW-DENSITY-LIPOPROTEIN RECEPTOR, APOLIPOPROTEIN-B, LIPOPROTEIN-LIPASE, AND HEPATIC LIPASE DOES NOT ACCOUNT FOR THE MAJOR FRACTION OF HERITABLE VARIATION IN THE PLASMA-CONCENTRATIONS OF LOW-DENSITY-LIPOPROTEIN CHOLESTEROL AND APOLIPOPROTEIN-B IN THE GENERAL-POPULATION
    COHEN, JC
    FREEMAN, DJ
    GRUNDY, SM
    LEVINE, DM
    GUERRA, R
    CIRCULATION, 1995, 92 (08) : 2356 - 2356