(Q44595802)

English

Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population

scientific article published in December 2003

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scholarly article

1 reference

Europe PubMed Central

4 December 2017

Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population (English)

1 reference

Europe PubMed Central

4 December 2017

hypercholesterolemia

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Felipe J Chaves

2

1 reference

Europe PubMed Central

4 December 2017

author name string

José T Real

1

1 reference

Europe PubMed Central

4 December 2017

Ismael Ejarque

3

1 reference

Europe PubMed Central

4 December 2017

Ana B García-García

4

1 reference

Europe PubMed Central

4 December 2017

Carmen Valldecabres

5

1 reference

Europe PubMed Central

4 December 2017

Juan F Ascaso

6

1 reference

Europe PubMed Central

4 December 2017

María E Armengod

7

1 reference

Europe PubMed Central

4 December 2017

Rafael Carmena

8

1 reference

Europe PubMed Central

4 December 2017

publication date

1 December 2003

1 reference

Europe PubMed Central

4 December 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

4 December 2017

11

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Europe PubMed Central

4 December 2017

959-965

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Europe PubMed Central

4 December 2017

12

1 reference

Europe PubMed Central

4 December 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201079

0 references

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

A World Wide Web site for low-density lipoprotein receptor gene mutations in familial hypercholesterolemia: sequence-based, tabular, and direct submission data handling.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Comparison of the effect of two low-density lipoprotein receptor class mutations on coronary heart disease among French-Canadian patients heterozygous for familial hypercholesterolaemia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Homozygous familial hypercholesterolemia: a paradigm for phenotypic variation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Heterozygous familial hypercholesterolaemia: the influence of the mutation type of the low-density-lipoprotein receptor gene and PvuII polymorphism of the normal allele on serum lipid levels and response to lovastatin treatment.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Large rearrangements of the LDL receptor gene and lipid profile in a FH Spanish population.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Familial defective apolipoprotein B-100: a mutation emerged in the mesolithic ancestors of Celtic peoples?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUM

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Allele-specific and asymmetric polymerase chain reaction amplification in combination: a one step polymerase chain reaction protocol for rapid diagnosis of familial defective apolipoprotein B-100.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

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/10.1038%2FSJ.EJHG.5201079

21 January 2018

Genetic variation at the apoA-IV gene locus and response to diet in familial hypercholesterolemia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Similar response to simvastatin in patients heterozygous for familial hypercholesterolemia with mRNA negative and mRNA positive mutations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Accumulation of chylomicron remnants in homozygous subjects with familial hypercholesterolaemia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Delayed chylomicron remnant clearance in subjects with heterozygous familial hypercholesterolaemia.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Homozygous familial defective apolipoprotein B-100. Enhanced removal of apolipoprotein E-containing VLDLs and decreased production of LDLs.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Phenotypic variability in familial hypercholesterolaemia: an update

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

21 January 2018

Coronary artery disease in heterozygous familial hypercholesterolemia patients with the same LDL receptor gene mutation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

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/10.1038%2FSJ.EJHG.5201079

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/10.1038%2FSJ.EJHG.5201079

7 January 2021

based on heuristic

inferred from DOI database lookup

Is responsiveness to lovastatin in familial hypercholesterolaemia heterozygotes influenced by the specific mutation in the low-density lipoprotein receptor gene?

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

7 January 2021

based on heuristic

inferred from DOI database lookup

Influence of genotype at the low density lipoprotein (LDL) receptor gene locus on the clinical phenotype and response to lipid-lowering drug therapy in heterozygous familial hypercholesterolaemia. The Familial Hypercholesterolaemia Regression Study

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

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/10.1038%2FSJ.EJHG.5201079

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation screening and genotype:phenotype correlation in familial hypercholesterolaemia

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

7 January 2021

based on heuristic

inferred from DOI database lookup

Influence of genetic variability in the nondeletion LDL-receptor allele on phenotypic variation in French-Canadian familial hypercholesterolemia heterozygotes sharing a 'null' LDL-receptor gene defect

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel single base deletion in the LDLR gene (211delG): Effect on serum lipid profiles and the influence of other genetic polymorphisms in the ACE, APOE and APOB genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

7 January 2021

based on heuristic

inferred from DOI database lookup

Phenotypic variation in heterozygous familial hypercholesterolemia: a comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

7 January 2021

based on heuristic

inferred from DOI database lookup

Variable expression of the mutation in familial defective apolipoprotein B-100

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201079

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201079

1 reference

Europe PubMed Central

4 December 2017

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1 reference

Europe PubMed Central

4 December 2017

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