(Q39470568)

12 September 2017

title

Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families (English)

1 reference

12 September 2017

Slimane MN

1

1 reference

12 September 2017

Lestavel S

2

1 reference

12 September 2017

Sun X

3

1 reference

12 September 2017

Maatouk F

4

1 reference

12 September 2017

Soutar AK

5

1 reference

12 September 2017

Ben Farhat MH

6

1 reference

12 September 2017

Clavey V

7

1 reference

12 September 2017

Benlian P

8

1 reference

12 September 2017

Hammami M

9

1 reference

12 September 2017

publication date

1 February 2001

1 reference

12 September 2017

1 reference

12 September 2017

volume

154

1 reference

12 September 2017

issue

3

1 reference

12 September 2017

page(s)

557-565

1 reference

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

12 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Two common low density lipoprotein receptor gene mutations cause familial hypercholesterolemia in Afrikaners

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Phenotypic expression of familial hypercholesterolaemia in central and southern Tunisia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Low density lipoprotein receptor mutations in a selected population of individuals with moderate hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Update on low density lipoprotein receptor mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Familial hypercholesterolemia in China. Identification of mutations in the LDL-receptor gene that result in a receptor-negative phenotype.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Characterization of deletions in the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

A common variant in the gene for lipoprotein lipase (Asp9-->Asn). Functional implications and prevalence in normal and hyperlipidemic subjects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

A lipoprotein lipase mutation (Asn291Ser) is associated with reduced HDL cholesterol levels in premature atherosclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Cadiovascular complications of homozygous familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

The association of LDL receptor activity, LDL cholesterol level, and clinical course in homozygous familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Homozygous familial hypercholesterolemic patients in China.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Genotype/phenotype correlations in familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

The influence of apolipoprotein E phenotype on the response to lovastatin therapy in patients with heterozygous familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Genetic and environmental factors affecting the incidence of coronary artery disease in heterozygous familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Coronary Artery Disease in Heterozygous Familial Hypercholesterolemia Patients With the Same LDL Receptor Gene Mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the li

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

A cholesterol-lowering gene maps to chromosome 13q.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Mediterranean diet, traditional risk factors, and the rate of cardiovascular complications after myocardial infarction: final report of the Lyon Diet Heart Study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

Inheritance of xanthomatosis and hyper-β-lipoproteinaemia: A study of 7 large kind reds

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2800%2900572-4

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/S0021-9150(00)00572-4

1 reference

12 September 2017

1 reference