MOLECULAR CHARACTERIZATION OF 2 NEW MUTATIONS OF LDL-RECEPTOR GENE

被引：0
|
作者：
COVIELLO, DA
LELLI, N
ROLLERI, M
GHISELLINI, M
MASTURZO, P
CALANDRA, S
AJMAR, F
BERTOLINI, S
机构：
[1] UNIV GENOA,INST BIOL & GENET,I-16126 GENOA,ITALY
[2] UNIV GENOA,DEPT INTERNAL MED,I-16126 GENOA,ITALY
[3] UNIV MODENA,INST GEN PATHOL,I-41100 MODENA,ITALY
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1991年 / 49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：184 / 184
页数：1
相关论文
共 50 条
  • [21] AN EFFICIENT SCREENING-PROCEDURE DETECTING 6 NOVEL MUTATIONS IN THE LDL-RECEPTOR GENE IN SWEDISH CHILDREN WITH HYPERCHOLESTEROLEMIA
    EKSTROM, U
    ABRAHAMSON, M
    SVEGER, T
    LOMBARDI, P
    NILSSONEHLE, P
    HUMAN GENETICS, 1995, 96 (02) : 147 - 150
  • [22] Two novel mutations in exon 4 of LDL-receptor gene causing familial hypercholesterolemia (FH) in northern Italy
    Bertolini, S
    Rolleri, M
    Trovatello, G
    Masturzo
    Elicio, N
    Martini, S
    Previato, L
    Calandra, S
    ATHEROSCLEROSIS, 1999, 145 : S3 - S3
  • [23] A "de novo" mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia
    Pisciotta, L
    Cantafora, A
    De Stefano, F
    Langheim, S
    Calandra, S
    Bertolini, S
    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2002, 1587 (01): : 7 - 11
  • [24] ROLE OF LDL-RECEPTOR IN MEDIA LDL UPTAKE AND DEGRADATION
    CURMI, PA
    RENAUD, G
    CHIRON, B
    JUAN, L
    TEDGUI, A
    ARCHIVES DES MALADIES DU COEUR ET DES VAISSEAUX, 1987, 80 (05): : 697 - 697
  • [25] USE OF GENE-THERAPY TO CORRECT ELEVATED LDL LEVELS IN LDL-RECEPTOR DEFICIENT RABBITS
    不详
    NUTRITION REVIEWS, 1992, 50 (06) : 171 - 173
  • [26] Characterization of a novel member of the LDL-receptor family, LRP11
    Ranganathan, S
    Migliorini, M
    Hembrough, TA
    Battey, FD
    Strickland, DK
    THROMBOSIS AND HAEMOSTASIS, 2005, 93 (04) : A33 - A33
  • [27] LDL-receptor genotyping and familial hypercholesterolaemia
    Glisic, S
    Alavantic, D
    JUGOSLOVENSKA MEDICINSKA BIOHEMIJA-YUGOSLAV MEDICAL BIOCHEMISTRY, 1996, 15 (04): : 210 - 211
  • [28] INFLUENCE OF SPECIFIC MUTATIONS AT THE LDL-RECEPTOR GENE LOCUS ON THE RESPONSE TO SIMVASTATIN THERAPY IN AFRIKANER PATIENTS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
    JEENAH, M
    SEPTEMBER, W
    VANROGGEN, FG
    DEVILLIERS, W
    SEFTEL, H
    MARAIS, D
    ATHEROSCLEROSIS, 1993, 98 (01) : 51 - 58
  • [29] Relative contribution of LDL-receptor and LPL gene mutations to angiographically assessed coronary artery disease among French Canadians
    Gaudet, D
    Vohl, MC
    Julien, P
    Tremblay, G
    Perron, P
    Gagne, C
    Bergeron, J
    Despres, JP
    ATHEROSCLEROSIS, 1997, 134 (1-2) : 77 - 77
  • [30] Novel mutations detected in LDL-receptor and apolipoprotein B genes in a Singapore population with hypercholesterolemia
    Koay, ESC
    Choong, ML
    AMERICAN JOURNAL OF PATHOLOGY, 1998, 153 (05): : 1651 - 1651
12345