A NEW LDL RECEPTOR GENE DELETION MUTATION IN THE SOUTH-AFRICAN POPULATION

被引：19

作者：

HENDERSON, HE ^{[1
]}

BERGER, GMB ^{[1
]}

MARAIS, AD ^{[1
]}

机构：

[1] UNIV CAPE TOWN,DEPT MED BIOCHEM,RONDEBOSCH 7700,SOUTH AFRICA

来源：

HUMAN GENETICS | 1988年 / 80卷 / 04期

关键词：

D O I：

10.1007/BF00273653

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

收藏

页码：371 / 374

页数：4

相关论文

共 16 条

[1] A RECEPTOR-MEDIATED PATHWAY FOR CHOLESTEROL HOMEOSTASIS
BROWN, MS
GOLDSTEIN, JL
[J]. SCIENCE, 1986, 232 (4746) : 34 - 47
[2] HENDERSON HE, 1987, S AFR MED J, V71, P218
[3] HOBBS HH, 1986, J BIOL CHEM, V261, P3114
[4] 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
[5] 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
[6] JENKINS R, 1980, S AFR MED J, V57, P1943
[7] HAPLOTYPE ASSOCIATIONS OF 3 DNA POLYMORPHISMS AT THE HUMAN LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE LOCUS IN FAMILIAL HYPERCHOLESTEROLEMIA
KOTZE, MJ
LANGENHOVEN, E
RETIEF, AE
STEYN, K
MARAIS, MP
GROBBELAAR, JJ
OOSTHUIZEN, CJJ
WEICH, HFH
BENADE, AJS
[J]. JOURNAL OF MEDICAL GENETICS, 1987, 24 (12) : 750 - 755
[8] LEHRMAN MA, 1987, J BIOL CHEM, V262, P3354
[9] PONEZ M, 1982, HEMOGLOBIN, V6, P27
[10] THE LDL RECEPTOR IN FAMILIAL HYPERCHOLESTEROLEMIA - USE OF HUMAN MUTATIONS TO DISSECT A MEMBRANE-PROTEIN
RUSSELL, DW
LEHRMAN, MA
SUDHOF, TC
YAMAMOTO, T
DAVIS, CG
HOBBS, HH
BROWN, MS
GOLDSTEIN, JL
[J]. COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY, 1986, 51 : 811 - 819