IDENTIFICATION OF A DELETION IN THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA

被引:36
作者
HORSTHEMKE, B [1 ]
KESSLING, AM [1 ]
SEED, M [1 ]
WYNN, V [1 ]
WILLIAMSON, R [1 ]
HUMPHRIES, SE [1 ]
机构
[1] ST MARYS HOSP,ALEXANDER SIMPSON LAB METAB RES,LONDON W2 1PG,ENGLAND
关键词
D O I
10.1007/BF00295672
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:75 / 78
页数:4
相关论文
共 20 条
[11]   MUTATION IN LDL RECEPTOR - ALU-ALU RECOMBINATION DELETES EXONS ENCODING TRANSMEMBRANE AND CYTOPLASMIC DOMAINS [J].
LEHRMAN, MA ;
SCHNEIDER, WJ ;
SUDHOF, TC ;
BROWN, MS ;
GOLDSTEIN, JL ;
RUSSELL, DW .
SCIENCE, 1985, 227 (4683) :140-146
[12]  
MANIATIS T, 1982, MOL CLONING LABORATO, P90
[13]  
MANIATIS T, 1982, MOL CLONING LABORATO, P170
[14]  
MELTON DA, 1984, NUCLEIC ACIDS RES, V12, P7035, DOI 10.1093/nar/12.18.7035
[15]  
OTT J, 1974, AM J HUM GENET, V26, P588
[16]  
SCHNEIDER WJ, 1982, J BIOL CHEM, V257, P2664
[17]   DETECTION OF SPECIFIC SEQUENCES AMONG DNA FRAGMENTS SEPARATED BY GEL-ELECTROPHORESIS [J].
SOUTHERN, EM .
JOURNAL OF MOLECULAR BIOLOGY, 1975, 98 (03) :503-+
[18]   POSTTRANSLATIONAL PROCESSING OF THE LDL RECEPTOR AND ITS GENETIC DISRUPTION IN FAMILIAL HYPERCHOLESTEROLEMIA [J].
TOLLESHAUG, H ;
GOLDSTEIN, JL ;
SCHNEIDER, WJ ;
BROWN, MS .
CELL, 1982, 30 (03) :715-724
[19]   THE LDL RECEPTOR LOCUS IN FAMILIAL HYPERCHOLESTEROLEMIA - MULTIPLE MUTATIONS DISRUPT TRANSPORT AND PROCESSING OF A MEMBRANE-RECEPTOR [J].
TOLLESHAUG, H ;
HOBGOOD, KK ;
BROWN, MS ;
GOLDSTEIN, JL .
CELL, 1983, 32 (03) :941-951
[20]   THE HUMAN LDL RECEPTOR - A CYSTEINE-RICH PROTEIN WITH MULTIPLE ALU SEQUENCES IN ITS MESSENGER-RNA [J].
YAMAMOTO, T ;
DAVIS, CG ;
BROWN, MS ;
SCHNEIDER, WJ ;
CASEY, ML ;
GOLDSTEIN, JL ;
RUSSELL, DW .
CELL, 1984, 39 (01) :27-38