Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH) (Q35246204)

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scientific article

Language	Label	Description	Also known as
English	Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH)	scientific article

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Characterization of six partial deletions in the low-density-lipoprotein (LDL) receptor gene causing familial hypercholesterolemia (FH) (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

hypercholesterolemia

0 references

1 reference

based on heuristic

inferred from title

familial hypercholesterolemia

1 reference

based on heuristic

inferred from title

author name string

Langlois S

1

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Kastelein JJ

2

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Hayden MR

3

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

language of work or name

0 references

publication date

1 July 1988

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

American Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

7 August 2017

43

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Europe PubMed Central

PubMed publication ID

7 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

60-68

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

Genomic sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

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

1 reference

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27 July 2018

cDNA cloning of the bovine low density lipoprotein receptor: feedback regulation of a receptor mRNA

1 reference

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27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

Quantitative determination of serum triglycerides by the use of enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

Identification of deletions in the human low density lipoprotein receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

A comprehensive evaluation of the heparin-manganese precipitation procedure for estimating high density lipoprotein cholesterol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

27 July 2018

Purification of the low density lipoprotein receptor, an acidic glycoprotein of 164,000 molecular weight

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715276

26 September 2018

A sex chromosome rearrangement in a human XX male caused by Alu-Alu recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/2837085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic determination of total serum cholesterol

1 reference

https://pubmed.ncbi.nlm.nih.gov/2837085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2837085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2837085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/2837085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels

1 reference

https://pubmed.ncbi.nlm.nih.gov/2837085

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 August 2017

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