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

[51] A HOTSPOT FOR NOVEL AMPLIFICATION JOINTS IN A MOSAIC OF ALU-LIKE REPEATS AND PALINDROMIC A+T-RICH DNA
HYRIEN, O
DEBATISSE, M
BUTTIN, G
DESAINTVINCENT, BR
[J]. EMBO JOURNAL, 1987, 6 (08) : 2401 - 2408
[52] A GENE DELETION ENDING AT THE MIDPOINT OF A REPETITIVE DNA-SEQUENCE IN ONE FORM OF HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN
JAGADEESWARAN, P
TUAN, D
FORGET, BG
WEISSMAN, SM
[J]. NATURE, 1982, 296 (5856) : 469 - 470
[53] REPETITIVE SEQUENCES IN EUKARYOTIC DNA AND THEIR EXPRESSION
JELINEK, WR
SCHMID, CW
[J]. ANNUAL REVIEW OF BIOCHEMISTRY, 1982, 51 : 813 - 844
[54] JOMPHE M, 1988, AM J HUM GENET S, V43, pA861
[55] NEW VARIANT OF LOW-DENSITY LIPOPROTEIN RECEPTOR GENE - FH-TONAMI
KAJINAMI, K
MABUCHI, H
ITOH, H
MICHISHITA, I
TAKEDA, M
WAKASUGI, T
KOIZUMI, J
TAKEDA, R
[J]. ARTERIOSCLEROSIS, 1988, 8 (02): : 187 - 192
[56] KAJINAMI K, 1990, CIRCULATION S2, V80, P278
[57] INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA
KHACHADURIAN, AK
[J]. AMERICAN JOURNAL OF MEDICINE, 1964, 37 (03) : 402 - &
[58] HETEROGENEOUS MUTATIONS IN THE BETA-SUBUNIT COMMON TO THE LFA-1, MAC-1, AND P150,95 GLYCOPROTEINS CAUSE LEUKOCYTE ADHESION DEFICIENCY
KISHIMOTO, TK
HOLLANDER, N
ROBERTS, TM
ANDERSON, DC
SPRINGER, TA
[J]. CELL, 1987, 50 (02) : 193 - 202
[59] DEFECTIVE PROCESSING AND BINDING OF LOW-DENSITY LIPOPROTEIN RECEPTORS IN FIBROBLASTS FROM A FAMILIAL HYPERCHOLESTEROLEMIC SUBJECT
KNIGHT, BL
GAVIGAN, SJP
SOUTAR, AK
PATEL, DD
[J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1989, 179 (03): : 693 - 698
[60] A RFLP ASSOCIATED WITH THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE (LDLR)
KOTZE, MJ
LANGENHOVEN, E
DIETZSCH, E
RETIEF, AE
[J]. NUCLEIC ACIDS RESEARCH, 1987, 15 (01) : 376 - 376

← 1 2 3 4 5 6 7 8 9 10 →