(Q40526887)

English

New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis

scientific article published on January 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

hypercholesterolemia

0 references

author name string

Francová H

1

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Trbusek M

2

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Zapletalová P

3

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Kuhrová V

4

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

publication date

1 January 2004

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

27

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

523-528

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation (-49C>T) in the promoter of the low density lipoprotein receptor gene associated with familial hypercholesterolemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The UMD-LDLR database: additions to the software and 490 new entries to the database.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three direct repeats and a TATA-like sequence are required for regulated expression of the human low density lipoprotein receptor gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A mutation (T-45C) in the promoter region of the low-density-lipoprotein (LDL)-receptor gene is associated with a mild clinical phenotype in a patient with heterozygous familial hypercholesterolaemia (FH).

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation -59c-->t in repeat 2 of the LDL receptor promoter: reduction in transcriptional activity and possible allelic interaction in a South African family with familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A single-base substitution in the proximal Sp1 site of the human low density lipoprotein receptor promoter as a cause of heterozygous familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15303010

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/B:BOLI.0000037337.93335.C4

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 September 2017

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