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Genetic heterogeneity in familial hypercholesterolemia: evidence for two different mutations affecting functions of low-density lipoprotein receptor

Author

Joseph L. Goldstein

1940 -

Published in: Proceedings of the National Academy of Sciences of the United States of America

Date of publication: March 1, 1975

Language: English

Main subject: hypercholesterolemia, lipoprotein, heterogeneity, familial hypercholesterolemia, drug receptors

Bibliographic databases:

Cites articles 13

Date

Title

Authors

November 1, 1951

Protein measurement with the Folin phenol reagent

, , ,
September 1, 1964

THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA
May 1, 1969

Hepatic lipid metabolism in experimental diabetes. V. The effect of concentration of oleate on metabolism of triglycerides and on ketogenesis
February 1, 1972

The metabolism of very low density lipoprotein proteins. I. Preliminary in vitro and in vivo observations
July 1, 1973

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia
October 1973

Familial hypercholesterolemia: identification of a defect in the regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity associated with overproduction of cholesterol
November 1, 1974

Esterification of low density lipoprotein cholesterol in human fibroblasts and its absence in homozygous familial hypercholesterolemia
August 1, 1974

Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia
July 1, 1974

Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man.
March 1974

Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity
February 1, 1974

Regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia
November 1, 1974

Suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and inhibition of growth of human fibroblasts by 7-ketocholesterol
January 1, 1975

Familial hypercholesterolemia: genetic, biochemical and pathophysiologic considerations

Article -

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