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

[41] HOBBS HH, 1986, J BIOL CHEM, V261, P3114
[42] MULTIPLE CRM- MUTATIONS IN FAMILIAL HYPERCHOLESTEROLEMIA - EVIDENCE FOR 13 ALLELES, INCLUDING 4 DELETIONS
HOBBS, HH
LEITERSDORF, E
GOLDSTEIN, JL
BROWN, MS
RUSSELL, DW
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1988, 81 (03) : 909 - 917
[43] EVIDENCE FOR A DOMINANT GENE THAT SUPPRESSES HYPERCHOLESTEROLEMIA IN A FAMILY WITH DEFECTIVE LOW-DENSITY LIPOPROTEIN RECEPTORS
HOBBS, HH
LEITERSDORF, E
LEFFERT, CC
CRYER, DR
BROWN, MS
GOLDSTEIN, JL
[J]. JOURNAL OF CLINICAL INVESTIGATION, 1989, 84 (02) : 656 - 664
[44] POLYMORPHISM AND EVOLUTION OF ALU SEQUENCES IN THE HUMAN LOW-DENSITY LIPOPROTEIN RECEPTOR GENE
HOBBS, HH
LEHRMAN, MA
YAMAMOTO, T
RUSSELL, DW
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1985, 82 (22) : 7651 - 7655
[45] DELETION IN THE GENE FOR THE LOW-DENSITY-LIPOPROTEIN RECEPTOR IN A MAJORITY OF FRENCH-CANADIANS WITH FAMILIAL HYPERCHOLESTEROLEMIA
HOBBS, HH
BROWN, MS
RUSSELL, DW
DAVIGNON, J
GOLDSTEIN, JL
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1987, 317 (12) : 734 - 737
[46] UNEQUAL CROSSING-OVER BETWEEN 2 ALU-REPETITIVE DNA-SEQUENCES IN THE LOW-DENSITY-LIPOPROTEIN-RECEPTOR GENE - A POSSIBLE MECHANISM FOR THE DEFECT IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA
HORSTHEMKE, B
BEISIEGEL, U
DUNNING, A
HAVINGA, JR
WILLIAMSON, R
HUMPHRIES, S
[J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1987, 164 (01): : 77 - 81
[47] IDENTIFICATION OF DELETIONS IN THE HUMAN LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE
HORSTHEMKE, B
DUNNING, A
HUMPHRIES, S
[J]. JOURNAL OF MEDICAL GENETICS, 1987, 24 (03) : 144 - 147
[48] HUANG LS, 1989, J BIOL CHEM, V264, P11394
[49] FAMILIAL HYPERCHOLESTEROLEMIA IN A RHESUS-MONKEY PEDIGREE - MOLECULAR-BASIS OF LOW-DENSITY-LIPOPROTEIN RECEPTOR DEFICIENCY
HUMMEL, M
LI, ZG
PFAFFINGER, D
NEVEN, L
SCANU, AM
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (08) : 3122 - 3126
[50] INSERTION AND OR DELETION OF MANY REPEATED DNA-SEQUENCES IN HUMAN AND HIGHER APE EVOLUTION
HWU, HR
ROBERTS, JW
DAVIDSON, EH
BRITTEN, RJ
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1986, 83 (11) : 3875 - 3879

← 1 2 3 4 5 6 7 8 9 10 →