(Q68214126)

English

Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis

scientific article published on 01 July 1992

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634234%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

Absence of mutations in the promoter region of the low density lipoprotein receptor gene in a large number of familial hypercholesterolaemia patients as revealed by denaturing gradient gel electrophoresis (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634234%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

chromosome abnormality

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634234

18 October 2022

1 reference

10.1007/BF00219185

https://api.crossref.org/works/10.1007/BF00219185

18 October 2022

author name string

B. Top

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634234

18 October 2022

A. G. Uitterlinden

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634234

18 October 2022

A. van der Zee

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634234

18 October 2022

J. J. Kastelein

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634234

18 October 2022

J. A. Leuven

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634234

18 October 2022

L. M. Havekes

6

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634234

18 October 2022

R. R. Frants

7

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1634234

18 October 2022

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1634234

18 October 2022

publication date

1 July 1992

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634234%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF00219185.pdf

Portable Document Format

1 reference

10.1007/BF00219185

https://api.crossref.org/works/10.1007/BF00219185

18 October 2022

http://link.springer.com/article/10.1007/BF00219185/fulltext.html

1 reference

10.1007/BF00219185

https://api.crossref.org/works/10.1007/BF00219185

18 October 2022

http://link.springer.com/content/pdf/10.1007/BF00219185

1 reference

10.1007/BF00219185

https://api.crossref.org/works/10.1007/BF00219185

18 October 2022

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634234%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

89

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634234%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634234%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

561-565

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634234%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

https://scigraph.springernature.com/pub.10.1007/bf00219185

0 references

DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rearrangements in the LDL receptor gene in Dutch familial hypercholesterolemic patients and the presence of a common 4 kb deletion

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A receptor-mediated pathway for cholesterol homeostasis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of a deletion in the low density lipoprotein (LDL) receptor gene in a patient with familial hypercholesterolaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Length-independent separation of DNA restriction fragments in two-dimensional gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sequence-Determined DNA Separations

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

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/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sterol-dependent repression of low density lipoprotein receptor promoter mediated by 16-base pair sequence adjacent to binding site for transcription factor Sp1

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

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/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid and efficient site-specific mutagenesis without phenotypic selection

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nearly all single base substitutions in DNA fragments joined to a GC-clamp can be detected by denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comprehensive detection of single base changes in human genomic DNA using denaturing gradient gel electrophoresis and a GC clamp

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

42 bp element from LDL receptor gene confers end-product repression by sterols when inserted into viral TK promoter

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

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/1634234

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/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of nucleotides responsible for enhancer activity of sterol regulatory element in low density lipoprotein receptor gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1634234

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00219185

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634234%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1634234%20AND%20SRC:MED&resulttype=core&format=json

22 September 2019

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