Homozygous familial hypercholesterolemia: specificity of the biochemical defect in cultured cells and feasibility of prenatal detection.
作者信息
Goldstein J L, Harrod M J, Brown M S
出版信息
Am J Hum Genet. 1974 Mar;26(2):199-206.
Abstract
摘要
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本文引用的文献
1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA.家族性高胆固醇血症的遗传
Am J Med. 1964 Sep;37:402-7. doi: 10.1016/0002-9343(64)90196-2.
3
Hyperlipidaemic xanthomatosis. II. Mode of inheritance in 55 families with essential hyperlipidaemia and xanthomatosis.高脂血症性黄瘤病。II. 55个原发性高脂血症和黄瘤病家族的遗传方式。
J Med Genet. 1968 Mar;5(1):9-28. doi: 10.1136/jmg.5.1.9.
4
Familial hypercholesterolemia in a large indred. Evidence for a monogenic mechanism.一个大家族中的家族性高胆固醇血症。单基因机制的证据。
Ann Intern Med. 1972 May;76(5):711-20. doi: 10.7326/0003-4819-76-5-711.
5
Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia.冠心病中的高脂血症。II. 176个家族血脂水平的遗传分析及一种新的遗传性疾病——混合型高脂血症的描述
J Clin Invest. 1973 Jul;52(7):1544-68. doi: 10.1172/JCI107332.
6
Regulation of cholesterol synthesis in normal and malignant tissue.正常组织和恶性组织中胆固醇合成的调控。
Fed Proc. 1973 Dec;32(12):2168-73.
7
Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol.家族性高胆固醇血症：与胆固醇过度产生相关的3-羟基-3-甲基戊二酰辅酶A还原酶活性调节缺陷的鉴定。
Proc Natl Acad Sci U S A. 1973 Oct;70(10):2804-8. doi: 10.1073/pnas.70.10.2804.
8
Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in human fibroblasts by lipoproteins.脂蛋白对人成纤维细胞中3-羟基-3-甲基戊二酰辅酶A还原酶活性的调节
Proc Natl Acad Sci U S A. 1973 Jul;70(7):2162-6. doi: 10.1073/pnas.70.7.2162.
9
Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients.
Nutr Metab. 1973;15(1):132-40. doi: 10.1159/000175431.
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Role of amniocentesis in the intrauterine detection of genetic disorders.羊膜穿刺术在子宫内检测遗传疾病中的作用。
N Engl J Med. 1970 Mar 12;282(11):596-9. doi: 10.1056/NEJM197003122821105.
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