(Q40758309)

23 September 2017

title

LDL receptor-GFP fusion proteins: new tools for the characterisation of disease-causing mutations in the LDL receptor gene (English)

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23 September 2017

3

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23 September 2017

Holst HU

1

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23 September 2017

Dagnaes-Hansen F

2

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23 September 2017

Andreasen PH

4

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23 September 2017

Jørgensen MM

5

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23 September 2017

Kølvraa S

6

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23 September 2017

Bolund L

7

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23 September 2017

Jensen TG

8

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23 September 2017

language of work or name

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1 November 2001

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European Journal of Human Genetics

23 September 2017

published in

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23 September 2017

volume

9

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23 September 2017

issue

11

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23 September 2017

page(s)

815-822

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Diagnostic strategy, genetic diagnosis and identification of new mutations in intermittent porphyria by denaturing gradient gel electrophoresis

23 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Normolipidemia and hypercholesterolemia in persons heterozygous for the same 1592 + 5G --> A splice site mutation in the low-density lipoprotein receptor gene

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Understanding, improving and using green fluorescent proteins

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

In vivo examination of membrane protein localization and degradation with green fluorescent protein

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Herpes simplex virus thymidine kinase-green fluorescent protein fusion gene: new tool for gene transfer studies and gene therapy

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Green fluorescent protein (GFP) fusion constructs in gene therapy research

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

High levels of foreign gene expression in hepatocytes after tail vein injections of naked plasmid DNA.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Hydrodynamics-based transfection in animals by systemic administration of plasmid DNA.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Fluorescent low density lipoprotein for observation of dynamics of individual receptor complexes on cultured human fibroblasts

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Hypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene delivery

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Tail-vein injection of mannan-binding lectin DNA leads to high expression levels of multimeric protein in liver

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Aggresomes: a cellular response to misfolded proteins

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Endocytosis of functional epidermal growth factor receptor-green fluorescent protein chimera

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Gene therapy for cholesterol

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200718

7 January 2021

Dimensions Publication ID

Identifiers

DOI

10.1038/SJ.EJHG.5200718

0 references

1044183939

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1 reference