(Q58136301)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1418919%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

title

Molecular genetics of familial hypercholesterolaemia: common and rare mutations of the low density lipoprotein receptor gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1418919%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

0 references

1 reference

1 reference

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24 September 2022

author name string

K. Kontula

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1418919

24 September 2022

U. M. Koivisto

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1418919

24 September 2022

P. Koivisto

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1418919

24 September 2022

H. Turtola

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1418919

24 September 2022

language of work or name

English

0 references

publication date

1 October 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1418919%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1418919%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

volume

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1418919%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1418919%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

page(s)

363-367

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1418919%20AND%20SRC:MED&resulttype=core&format=json

A receptor-mediated pathway for cholesterol homeostasis

15 September 2019

cites work

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Lipid abnormalities in male and female survivors of myocardial infarction and their first-degree relatives.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Regression of coronary atherosclerosis during treatment of familial hypercholesterolemia with combined drug regimens.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Liver transplantation to provide low-density-lipoprotein receptors and lower plasma cholesterol in a child with homozygous familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Regression of atherosclerosis in humans by lowering serum cholesterol

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Beyond cholesterol. Modifications of low-density lipoprotein that increase its atherogenicity

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Relation of serum lipoprotein(a) concentration and apolipoprotein(a) phenotype to coronary heart disease in patients with familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Assignment of the human gene for the low density lipoprotein receptor to chromosome 19: synteny of a receptor, a ligand, and a genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

5-Methylcytosine as an Endogenous Mutagen in the Human LDL Receptor and p53 Genes

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

The CpG dinucleotide and human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

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

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Overexpression of low density lipoprotein (LDL) receptor eliminates LDL from plasma in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Diet-induced hypercholesterolemia in mice: prevention by overexpression of LDL receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

Long-Term Improvement of Hypercholesterolemia After Ex Vivo Gene Therapy in LDLR-Deficient Rabbits

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F07853899209147838

10.3109/07853899209147838

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1418919%20AND%20SRC:MED&resulttype=core&format=json

15 September 2019

1 reference