High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects

被引：9
作者：
Horvath, A
Savov, A
Kirov, S
Karshelova, E
Paskaleva, I
Goudev, A
Ganev, V
机构：
[1] Med Univ Sofia, Dept Chem & Biochem, Sofia 1431, Bulgaria
[2] Med Univ Sofia, Univ Hosp Obstet & Gynaecol, Sofia, Bulgaria
来源：
JOURNAL OF MEDICAL GENETICS | 2001年 / 38卷 / 08期
关键词：
D O I：
10.1136/jmg.38.8.536
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：536 / 540
页数：5
相关论文
共 36 条
[1]  
Ceska R, 2000, PHYSIOL RES, V49, pS125
[2]   RAPID DETECTION OF HYPERVARIABLE REGIONS BY THE POLYMERASE CHAIN-REACTION TECHNIQUE [J].
DECORTE, R ;
CUPPENS, H ;
MARYNEN, P ;
CASSIMAN, JJ .
DNA AND CELL BIOLOGY, 1990, 9 (06) :461-469
[3]   FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100 IS CLINICALLY INDISTINGUISHABLE FROM FAMILIAL HYPERCHOLESTEROLEMIA [J].
DEFESCHE, JC ;
PRICKER, KL ;
HAYDEN, MR ;
VANDERENDE, BE ;
KASTELEIN, JJP .
ARCHIVES OF INTERNAL MEDICINE, 1993, 153 (20) :2349-2356
[4]  
EGGERTSEN G, 1994, J LIPID RES, V35, P1505
[5]  
Fisher E, 1999, CLIN CHEM, V45, P1026
[6]   APOLIPOPROTEIN-B GENE-MUTATIONS IN AUSTRIAN SUBJECTS WITH HEART-DISEASE AND THEIR KINDRED [J].
FRIEDL, W ;
LUDWIG, EH ;
BALESTRA, ME ;
ARNOLD, KS ;
PAULWEBER, B ;
SANDHOFER, F ;
MCCARTHY, BJ ;
INNERARITY, TL .
ARTERIOSCLEROSIS AND THROMBOSIS, 1991, 11 (02) :371-378
[7]   INDEPENDENT MUTATIONS AT CODON-3500 OF THE APOLIPOPROTEIN-B GENE ARE ASSOCIATED WITH HYPERLIPIDEMIA [J].
GAFFNEY, D ;
REID, JM ;
CAMERON, IM ;
VASS, K ;
CASLAKE, MJ ;
SHEPHERD, J ;
PACKARD, CJ .
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 1995, 15 (08) :1025-1029
[8]   LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias [J].
Górski, B ;
Kubalska, J ;
Naruszewicz, M ;
Lubinski, J .
HUMAN GENETICS, 1998, 102 (05) :562-565
[9]   ABSENCE OF FAMILIAL DEFECTIVE APOLIPOPROTEIN-B-100 IN FINNISH PATIENTS WITH ELEVATED SERUM-CHOLESTEROL [J].
HAMALAINEN, T ;
PALOTIE, A ;
AALTOSETALA, K ;
KONTULA, K ;
TIKKANEN, MJ .
ATHEROSCLEROSIS, 1990, 82 (03) :177-183
[10]  
Hansen PS, 1998, DAN MED BULL, V45, P370
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