(Q73589352)

English

Functional characterization of two low density lipoprotein receptor gene mutations by fluorescence flow cytometric assessment of receptor activity in stimulated human T-lymphocytes

scientific article published on 01 February 2000

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

Functional characterization of two low density lipoprotein receptor gene mutations by fluorescence flow cytometric assessment of receptor activity in stimulated human T-lymphocytes (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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author name string

B Raungaard

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

H K Jensen

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

J U Brorholt-Petersen

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

F Heath

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

O Faergeman

5

1 reference

Europe PubMed Central

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5 November 2019

publication date

1 February 2000

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Europe PubMed Central

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5 November 2019

Clinical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

57

1 reference

Europe PubMed Central

PubMed publication ID

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5 November 2019

2

1 reference

Europe PubMed Central

PubMed publication ID

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5 November 2019

110-115

1 reference

Europe PubMed Central

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5 November 2019

Recycling receptors: The round-trip itinerary of migrant membrane proteins

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Flow cytometric assessment of LDL receptor activity in peripheral blood mononuclear cells compared to gene mutation detection in diagnosis of heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Common low-density lipoprotein receptor mutations in the French Canadian population

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

The LDL receptor locus in familial hypercholesterolemia: Multiple mutations disrupt transport and processing of a membrane receptor

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of an exon 3 mutation (Trp66-->Gly) of the LDL receptor with variable expression of familial hypercholesterolemia in a French Canadian family

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations of low-density-lipoprotein-receptor gene, variation in plasma cholesterol, and expression of coronary heart disease in homozygous familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic variation among familial hypercholesterolemics heterozygous for either one of two Afrikaner founder LDL receptor mutations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Effect on plasma lipid levels of different classes of mutations in the low-density lipoprotein receptor gene in patients with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterozygous familial hypercholesterolemia in children: low-density lipoprotein receptor mutational analysis and variation in the expression of plasma lipoprotein-lipid concentrations

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of the 664 proline to leucine mutation in the low density lipoprotein receptor in four unrelated patients with familial hypercholesterolaemia in the UK

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Circadian rhythm in hepatic low-density-lipoprotein (LDL)-receptor expression and plasma LDL levels

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetics of the low density lipoprotein receptor. Diminished receptor activity in lymphocytes from heterozygotes with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2000.570204.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2000.570204.X

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10735631%20AND%20SRC:MED&resulttype=core&format=json

5 November 2019

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