(Q42543534)

2 November 2017

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

1 reference

familial hypercholesterolemia

2 November 2017

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1

1 reference

2 November 2017

Lombardi MP

2

1 reference

2 November 2017

Westendorp RG

3

1 reference

2 November 2017

Leuven JA

4

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2 November 2017

Meinders AE

5

1 reference

2 November 2017

Van der Laarse A

6

1 reference

2 November 2017

Frants RR

7

1 reference

2 November 2017

Havekes LM

8

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2 November 2017

Smelt AH

9

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2 November 2017

1 February 1998

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2 November 2017

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2 November 2017

136

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2 November 2017

2

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2 November 2017

247-254

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A receptor-mediated pathway for cholesterol homeostasis

2 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

The rapid detection of unknown mutations in nucleic acids.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Mevinolin, an inhibitor of cholesterol synthesis, induces mRNA for low density lipoprotein receptor in livers of hamsters and rabbits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

The effects of hypercholesterolaemia, simvastatin and dietary fat on the low density lipoprotein receptor of unstimulated mononuclear cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Influence of specific mutations at the LDL-receptor gene locus on the response to simvastatin therapy in Afrikaner patients with heterozygous familial hypercholesterolaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

beta zero thalassemia in Sardinia is caused by a nonsense mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Detection of allele-specific transcripts by the polymerase chain reaction (AST-PCR)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Effect of apolipoprotein E and insulin resistance on VLDL particles in combined hyperlipidemic patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Report of the National Cholesterol Education Program Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. The Expert Panel

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

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%2897%2900216-5

Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Essential familial hypercholesterolemia and xanthomatosis; follow-up study of twelve Danish families.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Ischaemic disease in men and women with familial hypercholesterolaemia and xanthomatosis. A comparative study of genetic and environmental factors in 274 heterozygous cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Heterozygous familial hypercholesterolemia. Relationship between plasma lipids, lipoproteins, clinical manifestations and ischaemic heart disease in men and women

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

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%2897%2900216-5

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%2897%2900216-5

Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

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%2897%2900216-5

Two mutant low-density-lipoprotein receptors in Afrikaners slowly processed to surface forms exhibiting rapid degradation or functional heterogeneity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

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.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

Rate and equilibrium constants for binding of apo-E HDL c (a cholesterol-induced lipoprotein) and low density lipoproteins to human fibroblasts: Evidence for multiple receptor binding of apo-E HDL c

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2897%2900216-5

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%2897%2900216-5

10.1016/S0021-9150(97)00216-5

7 January 2021

Identifiers

DOI

1 reference

2 November 2017

1 reference