MUTATIONS OF THE LOW-DENSITY LIPOPROTEIN RECEPTOR IN JAPANESE KINDREDS WITH FAMILIAL HYPERCHOLESTEROLEMIA

被引：26

作者：

FUNAHASHI, T

MIYAKE, Y

YAMAMOTO, A

MATSUZAWA, Y

KISHINO, B

机构：

[1] NATL CARDIOVASC CTR,RES INST,DEPT ETIOL & PATHOPHYSIOL,5-7-1 FUJISHIRODAI,SUITA,OSAKA 565,JAPAN

[2] SUMITOMO HOSP,OSAKA 530,JAPAN

[3] OSAKA UNIV,SCH MED,DEPT INTERNAL MED 2,OSAKA 553,JAPAN

来源：

HUMAN GENETICS | 1988年 / 79卷 / 02期

关键词：

D O I：

10.1007/BF00280546

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：103 / 108

页数：6

共 13 条

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[3] THE LDL RECEPTOR DEFECT IN FAMILIAL HYPERCHOLESTEROLEMIA - IMPLICATIONS FOR PATHOGENESIS AND THERAPY
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[J]. MEDICAL CLINICS OF NORTH AMERICA, 1982, 66 (02) : 335 - 362
[4] GOLDSTEIN JL, 1983, METABOLIC BASIS INHE, P672
[5] REVERSIBLE DEFECTS IN O-LINKED GLYCOSYLATION AND LDL RECEPTOR EXPRESSION IN A UDP-GAL/UDP-GAINAC 4-EPIMERASE DEFICIENT MUTANT
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[J]. CELL, 1986, 44 (05) : 749 - 759
[6] 3 TYPES OF LOW-DENSITY-LIPOPROTEIN RECEPTOR-DEFICIENT MUTANT HAVE PLEIOTROPIC DEFECTS IN THE SYNTHESIS OF N-LINKED, O-LINKED, AND LIPID-LINKED CARBOHYDRATE CHAINS
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[J]. JOURNAL OF CELL BIOLOGY, 1986, 102 (05) : 1576 - 1585
[7] LEHRMAN MA, 1987, J BIOL CHEM, V262, P401
[8] LOWRY OH, 1951, J BIOL CHEM, V193, P265
[9] CELLS OF AN INTERNALIZATION-DEFECTIVE FAMILIAL HYPERCHOLESTEROLEMIA MUTANT SECRETE LOW-DENSITY-LIPOPROTEIN RECEPTORS
MIYAKE, Y
FUNAHASHI, T
YAMAMOTO, A
[J]. JOURNAL OF BIOCHEMISTRY, 1987, 101 (06) : 1355 - 1360
[10] HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA MUTANT WITH A DEFECT IN INTERNALIZATION OF LOW-DENSITY LIPOPROTEIN
MIYAKE, Y
TAJIMA, S
YAMAMURA, T
YAMAMOTO, A
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (08): : 5151 - 5155

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