(Q34192661)

English

Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene

scientific article published on August 1, 1991

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene (English)

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

0 references

hypercholesterolemia

0 references

1 reference

based on heuristic

inferred from title

familial hypercholesterolemia

1 reference

based on heuristic

inferred from title

author name string

A. K. Soutar

1

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%3A1830890

4 December 2022

S. N. McCarthy

2

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%3A1830890

4 December 2022

M. Seed

3

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%3A1830890

4 December 2022

B. L. Knight

4

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%3A1830890

4 December 2022

language of work or name

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publication date

1 August 1991

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

full work available at URL

https://europepmc.org/articles/PMC295368

online access status

content deliverer

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%3A1830890

4 December 2022

https://europepmc.org/articles/PMC295368?pdf=render

Portable Document Format

online access status

content deliverer

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%3A1830890

4 December 2022

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

88

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

483-492

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

Factors of risk in the development of coronary heart disease--six year follow-up experience. The Framingham Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Studies on the role of specific cell surface receptors in the removal of lipoprotein (a) in man

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Lipoprotein-polyanion-metal interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Serum lipoprotein Lp(a) concentrations are not influenced by an HMG CoA reductase inhibitor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Lp(a) glycoprotein phenotypes. Inheritance and relation to Lp(a)-lipoprotein concentrations in plasma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

A simple and efficient non-organic procedure for the isolation of genomic DNA from blood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Defects in the low density lipoprotein receptor gene affect lipoprotein (a) levels: multiplicative interaction of two gene loci associated with premature atherosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Genetics of the quantitative Lp(a) lipoprotein trait. III. Contribution of Lp(a) glycoprotein phenotypes to normal lipid variation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Rhesus monkey model of familial hypercholesterolemia: relation between plasma Lp[a] levels, apo[a] isoforms, and LDL-receptor function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Polymorphic forms of human apolipoprotein[a]: inheritance and relationship of their molecular weights to plasma levels of lipoprotein[a].

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Overexpression of human low density lipoprotein receptors leads to accelerated catabolism of Lp(a) lipoprotein in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Gel isoelectric focusing method for specific diagnosis of familial hyperlipoproteinemia type 3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295368

5 July 2018

Lp(a) phenotyping by immunoblotting with polyclonal and monoclonal antibodies

1 reference

https://pubmed.ncbi.nlm.nih.gov/1830890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective processing and binding of low-density lipoprotein receptors in fibroblasts from a familial hypercholesterolaemic subject

1 reference

https://pubmed.ncbi.nlm.nih.gov/1830890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunoblot analysis of low density lipoprotein receptors in fibroblasts from subjects with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1830890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of human plasma lipoprotein (a). Isolation and characterization of the lipoprotein subspecies and their apoproteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/1830890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity of human lipoprotein Lp[a]: cytochemical and biochemical studies on the interaction of two Lp[a] species with the LDL receptor

1 reference

https://pubmed.ncbi.nlm.nih.gov/1830890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human plasma lipoprotein [a]. Structural properties

1 reference

https://pubmed.ncbi.nlm.nih.gov/1830890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Isolation, characterization, and uptake in human fibroblasts of an apo(a)-free lipoprotein obtained on reduction of lipoprotein(a)

1 reference

https://pubmed.ncbi.nlm.nih.gov/1830890

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI115329

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

31 July 2017

ResearchGate publication ID

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