(Q50564695)

English

Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

scientific article published in October 1999

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia. (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

hypercholesterolemia

0 references

0 references

1 reference

based on heuristic

inferred from title

author name string

Jensen HK

1

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

Jensen LG

2

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

Meinertz H

3

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

Hansen PS

4

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

Gregersen N

5

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

Faergeman O

6

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

publication date

1 October 1999

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

Atherosclerosis

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

146

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

2

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

337-344

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

How effective is drug therapy in heterozygous familial hypercholesterolemia?

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Cost-effectiveness considerations in the treatment of heterozygous familial hypercholesterolemia with medications

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

The Trp23-Stop and Trp66-Gly mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in Denmark

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Two point mutations (313 + 1G --> A and 313 + 1G --> T) in the splice donor site of intron 3 of the low-density lipoprotein receptor gene are associated with familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

A G-1-to-A acceptor splice site LDLR mutant allele leads to reduced relative transcript levels in patients with heterozygous familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Allele-specific measurement of low-density lipoprotein receptor transcript levels

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Common Mutations in the Low-Density-Lipoprotein–Receptor Gene Causing Familial Hypercholesterolemia in the Japanese Population

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Ten LDL receptor mutants explain one third of familial hypercholesterolemia in a German sample

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Molecular genetics of familial hypercholesterolaemia in Norway

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Molecular genetics of familial hypercholesterolemia in Israel

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Multiple fluorescence-based PCR-SSCP analysis using internal fluorescent labeling of PCR products

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2899%2900158-6

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0021-9150(99)00158-6

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 March 2018

http://europepmc.org/abstract/MED/10532689

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q50564695&oldid=2183979741"