(Q33680998)

28 July 2017

Identification of a common low density lipoprotein receptor mutation (C163Y) in the west of Scotland (English)

1 reference

28 July 2017

1 reference

Lee WK

1

1 reference

28 July 2017

Haddad L

2

1 reference

28 July 2017

Macleod MJ

3

1 reference

28 July 2017

Dorrance AM

4

1 reference

28 July 2017

Wilson DJ

5

1 reference

28 July 2017

Gaffney D

6

1 reference

28 July 2017

Dominiczak MH

7

1 reference

28 July 2017

Packard CJ

8

1 reference

28 July 2017

Day IN

9

1 reference

28 July 2017

Humphries SE

10

1 reference

28 July 2017

Dominiczak AF

11

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 July 1998

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

35

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28 July 2017

7

1 reference

28 July 2017

573-578

1 reference

Identification of a common low density lipoprotein receptor mutation (R329X) in the south of England: complete linkage disequilibrium with an allele of microsatellite D19S394.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

Identification of recurrent and novel mutations in exon 4 of the LDL receptor gene in patients with familial hypercholesterolemia in the United Kingdom.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

Genetic aspects of arteriosclerosis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

Transport-deficient mutations in the low density lipoprotein receptor. Alterations in the cysteine-rich and cysteine-poor regions of the protein block intracellular transport.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

Polymorphic DNA haplotypes at the LDL receptor locus

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

Association between common alleles of the low-density lipoprotein receptor gene region and interindividual variation in plasma lipid and apolipoprotein levels in a population-based sample from Rochester, Minnesota.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

A deletion in the first cysteine-rich repeat of the low-density-lipoprotein receptor leads to the formation of multiple misfolded isomers.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051368

Characterization of two new point mutations in the low density lipoprotein receptor genes of an English patient with homozygous familial hypercholesterolemia

30 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

High sensitivity of the single-strand conformation polymorphism method for detecting sequence variations in the low-density lipoprotein receptor gene validated by DNA sequencing

1 reference

12 December 2020

Phenotypic presentation of the FH-Cincinnati type 5 low density lipoprotein receptor mutation

1 reference

12 December 2020

Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants

1 reference

12 December 2020

Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia

1 reference

12 December 2020

Familial hypercholesterolemia with "normal" cholesterol in obligate heterozygotes

1 reference

12 December 2020

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Apolipoprotein E phenotypes in familial hypercholesterolaemia: importance for expression of disease and response to therapy

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.7.573

1 reference

28 July 2017

1 reference

28 July 2017

1 reference