FAMILIAL HYPERCHOLESTEROLEMIA - EVIDENCE FOR A NEWLY RECOGNIZED MUTATION DETERMINING INCREASED FIBROBLAST RECEPTOR AFFINITY BUT DECREASED CAPACITY FOR LOW-DENSITY LIPOPROTEIN IN 2 SIBLINGS

被引:14
作者
OSTLUND, RE
LEVY, RA
WITZTUM, JL
SCHONFELD, G
机构
[1] WASHINGTON UNIV,LIPID RES CTR,DEPT MED,ST LOUIS,MO 63110
[2] WASHINGTON UNIV,DEPT PREVENT MED,ST LOUIS,MO 63110
关键词
D O I
10.1172/JCI110678
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
引用
收藏
页码:823 / 831
页数:9
相关论文
共 22 条
[1]  
BILHEIMER DW, 1978, J CLIN INVEST, V61, P678, DOI 10.1172/JCI108980
[2]   HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA - POSSIBLE BIOCHEMICAL EXPLANATION OF CLINICAL HETEROGENEITY [J].
BRESLOW, JL ;
SPAULDING, DR ;
LUX, SE ;
LEVY, RI ;
LEES, RS .
NEW ENGLAND JOURNAL OF MEDICINE, 1975, 293 (18) :900-903
[3]  
FREDRICKSON DS, 1978, METABOLIC BASIS INHE
[4]   GENETIC-HETEROGENEITY IN FAMILIAL HYPERCHOLESTEROLEMIA - EVIDENCE FOR 2 DIFFERENT MUTATIONS AFFECTING FUNCTIONS OF LOW-DENSITY LIPOPROTEIN RECEPTOR [J].
GOLDSTEIN, JL ;
DANA, SE ;
BRUNSCHEDE, GY ;
BROWN, MS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1975, 72 (03) :1092-1096
[5]  
GOLDSTEIN JL, 1974, J BIOL CHEM, V249, P5153
[6]   LDL RECEPTOR LOCUS AND THE GENETICS OF FAMILIAL HYPERCHOLESTEROLEMIA [J].
GOLDSTEIN, JL ;
BROWN, MS .
ANNUAL REVIEW OF GENETICS, 1979, 13 :259-289
[7]  
GOLDSTEIN JL, 1977, CELL, V12, P621
[8]   NON-INVERTED VERSUS INVERTED PLOTS IN ENZYME KINETICS [J].
HOFSTEE, BHJ .
NATURE, 1959, 184 (4695) :1296-1298
[9]   ENHANCED BINDING BY CULTURED HUMAN FIBROBLASTS OF APO-E-CONTAINING LIPOPROTEINS AS COMPARED WITH LOW-DENSITY LIPOPROTEINS [J].
INNERARITY, TL ;
MAHLEY, RW .
BIOCHEMISTRY, 1978, 17 (08) :1440-1447
[10]  
INNERARITY TL, 1979, J BIOL CHEM, V254, P4186