(Q35073833)

English

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

scientific article published on March 1, 1975

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scholarly article

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Europe PubMed Central

PubMed publication ID

6 August 2017

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

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Europe PubMed Central

PubMed publication ID

6 August 2017

hypercholesterolemia

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1 reference

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inferred from title

1 reference

based on heuristic

inferred from title

familial hypercholesterolemia

1 reference

based on heuristic

inferred from title

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A236556

6 June 2022

Joseph L. Goldstein

1

object named as

J L Goldstein

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

author name string

S. E. Dana

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A236556

6 June 2022

G. Y. Brunschede

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A236556

6 June 2022

M. S. Brown

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A236556

6 June 2022

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publication date

1 March 1975

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6 August 2017

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https://europepmc.org/articles/PMC432472

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Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A236556

6 June 2022

https://europepmc.org/articles/PMC432472?pdf=render

Portable Document Format

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Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A236556

6 June 2022

https://pnas.org/doi/pdf/10.1073/pnas.72.3.1092

1 reference

10.1073/PNAS.72.3.1092

https://api.crossref.org/works/10.1073/PNAS.72.3.1092

6 June 2022

Proceedings of the National Academy of Sciences of the United States of America

1 reference

Europe PubMed Central

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6 August 2017

72

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Europe PubMed Central

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6 August 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

1092-1096

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

Protein measurement with the Folin phenol reagent

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=432472

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=432472

8 July 2018

Esterification of low density lipoprotein cholesterol in human fibroblasts and its absence in homozygous familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=432472

8 July 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=432472

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=432472

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=432472

8 July 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=432472

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=432472

8 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=432472

8 July 2018

Familial hypercholesterolemia: genetic, biochemical and pathophysiologic considerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=432472

8 July 2018

THE INHERITANCE OF ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA

1 reference

https://pubmed.ncbi.nlm.nih.gov/236556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/236556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/236556

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.72.3.1092

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

1975PNAS...72.1092G

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 August 2017

ResearchGate publication ID

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