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

被引:73
作者
HORSTHEMKE, B
BEISIEGEL, U
DUNNING, A
HAVINGA, JR
WILLIAMSON, R
HUMPHRIES, S
机构
[1] CHARING CROSS SUNLEY RES CTR,LURGAN AVE,LONDON W6 8LW,ENGLAND
[2] UNIV LONDON,ST MARYS HOSP,SCH MED,DEPT BIOCHEM,LONDON,ENGLAND
[3] UNIV KRANKENHAUS EPPENDORF,HAMBURG,FED REP GER
来源
EUROPEAN JOURNAL OF BIOCHEMISTRY | 1987年 / 164卷 / 01期
关键词
D O I
10.1111/j.1432-1033.1987.tb10995.x
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:77 / 81
页数:5
相关论文
共 18 条
[1]   DNA POLYMORPHISM AND MOLECULAR PATHOLOGY OF THE HUMAN GLOBIN GENE CLUSTERS [J].
ANTONARAKIS, SE ;
KAZAZIAN, HH ;
ORKIN, SH .
HUMAN GENETICS, 1985, 69 (01) :1-14
[2]  
BEISIEGEL U, 1982, J BIOL CHEM, V257, P3150
[3]   A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS [J].
BROWN, MS ;
GOLDSTEIN, JL .
SCIENCE, 1986, 232 (4746) :34-47
[4]  
DANIEL TO, 1983, J BIOL CHEM, V258, P4606
[5]   BASE SEQUENCE STUDIES OF 300 NUCLEOTIDE RENATURED REPEATED HUMAN DNA CLONES [J].
DEININGER, PL ;
JOLLY, DJ ;
RUBIN, CM ;
FRIEDMANN, T ;
SCHMID, CW .
JOURNAL OF MOLECULAR BIOLOGY, 1981, 151 (01) :17-33
[6]   THE STRUCTURE AND EVOLUTION OF THE HUMAN BETA-GLOBIN GENE FAMILY [J].
EFSTRATIADIS, A ;
POSAKONY, JW ;
MANIATIS, T ;
LAWN, RM ;
OCONNELL, C ;
SPRITZ, RA ;
DERIEL, JK ;
FORGET, BG ;
WEISSMAN, SM ;
SLIGHTOM, JL ;
BLECHL, AE ;
SMITHIES, O ;
BARALLE, FE ;
SHOULDERS, CC ;
PROUDFOOT, NJ .
CELL, 1980, 21 (03) :653-668
[7]  
FEINBERG AP, 1984, ANAL BIOCHEM, V137, P266
[8]   IDENTIFICATION OF A DELETION IN THE LOW-DENSITY LIPOPROTEIN (LDL) RECEPTOR GENE IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA [J].
HORSTHEMKE, B ;
KESSLING, AM ;
SEED, M ;
WYNN, V ;
WILLIAMSON, R ;
HUMPHRIES, SE .
HUMAN GENETICS, 1985, 71 (01) :75-78
[9]  
HORSTHEMKE B, 1987, IN PRESS J MED GENET
[10]  
HUMPHRIES SE, 1985, LANCET, V1, P1003