(Q41924391)

14 October 2017

Identification of deletions in the human low density lipoprotein receptor gene (English)

1 reference

14 October 2017

1 reference

Horsthemke B

1

1 reference

14 October 2017

Dunning A

series ordinal

2

1 reference

14 October 2017

Humphries S

series ordinal

3

1 reference

14 October 2017

language of work or name

English

0 references

publication date

1 March 1987

1 reference

Journal of Medical Genetics

14 October 2017

1 reference

14 October 2017

24

1 reference

14 October 2017

144-147

1 reference

14 October 2017

3

1 reference

"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049946

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049946

Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049946

Expression of the familial hypercholesterolemia gene in heterozygotes: mechanism for a dominant disorder in man.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049946

Familial hypercholesterolemia: defective binding of lipoproteins to cultured fibroblasts associated with impaired regulation of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049946

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049946

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049946

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049946

The LDL receptor gene: a mosaic of exons shared with different proteins

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049946

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049946

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

5 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3572996

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The use of polymorphic DNA and protein markers for the third complement component for determining linkage of familial hypercholesterolaemia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3572996

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3572996

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

14 October 2017

1 reference