THE LDL RECEPTOR LOCUS IN FAMILIAL HYPERCHOLESTEROLEMIA - MUTATIONAL ANALYSIS OF A MEMBRANE-PROTEIN

被引：581

作者：

HOBBS, HH ^{[1
]}

RUSSELL, DW ^{[1
]}

BROWN, MS ^{[1
]}

GOLDSTEIN, JL ^{[1
]}

机构：

[1] UNIV TEXAS,SW MED CTR,DEPT INTERNAL MED,DALLAS,TX 75235

来源：

ANNUAL REVIEW OF GENETICS | 1990年 / 24卷

关键词：

HUMAN BIOCHEMICAL GENETICS; LIPOPROTEIN RECEPTORS; CHOLESTEROL METABOLISM; EXON SHUFFLING; LDL RECEPTOR MUTATIONS; ALU ELEMENTS REPETITIVE ELEMENTS; RECOMBINATION;

D O I：

10.1146/annurev.ge.24.120190.001025

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：133 / 170

页数：38

共 123 条

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[2] A MUTATION IN THE INSULIN-RECEPTOR GENE THAT IMPAIRS TRANSPORT OF THE RECEPTOR TO THE PLASMA-MEMBRANE AND CAUSES INSULIN-RESISTANT DIABETES
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[3] THE LDL RECEPTOR RELATED PROTEIN, LRP, IS AN APOLIPOPROTEIN-E-BINDING PROTEIN
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[4] CLINICAL-STUDIES IN A KINDRED WITH A KINETIC LDL RECEPTOR MUTATION CAUSING FAMILIAL HYPERCHOLESTEROLEMIA .2.
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[6] BRINK PA, 1986, S AFR MED J, V70, P80
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[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1988, 85 (13) : 4770 - 4774
[8] A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS
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[J]. SCIENCE, 1986, 232 (4746) : 34 - 47
[9] CHEN WJ, 1990, J BIOL CHEM, V265, P3116
[10] THE MOLECULAR GENETICS OF HUMAN-HEMOGLOBIN
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[J]. PROGRESS IN NUCLEIC ACID RESEARCH AND MOLECULAR BIOLOGY, 1984, 31 : 315 - 462

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