(Q33848081)

English

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype

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scholarly article

1 reference

Europe PubMed Central

29 July 2017

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype (English)

1 reference

Europe PubMed Central

29 July 2017

0 references

author name string

Aalto-Setälä K

1

1 reference

Europe PubMed Central

29 July 2017

Helve E

2

1 reference

Europe PubMed Central

29 July 2017

Kovanen PT

3

1 reference

Europe PubMed Central

29 July 2017

Kontula K

4

1 reference

Europe PubMed Central

29 July 2017

language of work or name

0 references

publication date

1 August 1989

1 reference

Europe PubMed Central

29 July 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

29 July 2017

84

1 reference

Europe PubMed Central

29 July 2017

499-505

1 reference

Europe PubMed Central

29 July 2017

2

1 reference

Europe PubMed Central

29 July 2017

Protein measurement with the Folin phenol reagent

1 reference

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28 July 2018

THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUM

1 reference

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28 July 2018

A simple method for displaying the hydropathic character of a protein

1 reference

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Purification of mouse immunoglobulin heavy-chain messenger RNAs from total myeloma tumor RNA

1 reference

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

1 reference

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Polymorphic DNA region adjacent to the 5' end of the human insulin gene

1 reference

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28 July 2018

A simple and very efficient method for generating cDNA libraries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 July 2018

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

1 reference

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28 July 2018

Hereditary diseases in Finland; rare flora in rare soul

1 reference

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The metabolism of very low density lipoprotein proteins. I. Preliminary in vitro and in vivo observations

1 reference

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28 July 2018

The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 July 2018

Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor 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=548909

28 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=548909

28 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=548909

28 July 2018

Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 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=548909

28 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=548909

28 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=548909

28 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=548909

28 July 2018

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 July 2018

Familial hypercholesterolemia in South African Afrikaners. PvuII and StuI DNA polymorphisms in the LDL-receptor gene consistent with a predominating founder gene effect.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 July 2018

Genetics of the LDL receptor: Evidence that the mutations affecting binding and internalization are allelic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 July 2018

Release of low density lipoprotein from its cell surface receptor by sulfated glycosaminoglycans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

28 July 2018

Binding and degradation of low density lipoproteins by cultured human fibroblasts. Comparison of cells from a normal subject and from a patient with homozygous familial hypercholesterolemia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=548909

29 October 2018

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/2760198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2760198

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/2760198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New variant of low density lipoprotein receptor gene. FH-Tonami

1 reference

https://pubmed.ncbi.nlm.nih.gov/2760198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a deletion in the LDL receptor gene. A Finnish type of mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/2760198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/2760198

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI114192

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

1 reference

Europe PubMed Central

29 July 2017

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