(Q73112106)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Detection and characterization of a novel splice mutation in the LDL receptor intron 12 resulting in two different mutant mRNA variants (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

H Nissen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

A B Hansen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

P Guldberg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

N E Petersen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

T S Hansen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

M Hørder

6

1 reference

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1 November 2019

publication date

1 January 1997

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1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

128

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

1

1 reference

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1 November 2019

page(s)

75-83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

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

1 November 2019

cites work

1 reference

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

7 January 2021

1 reference

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

7 January 2021

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Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

7 January 2021

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Familial defective apolipoprotein B-100: detection in the United Kingdom and Scandinavia, and clinical characteristics of ten cases

7 January 2021

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Phenotypic heterogeneity associated with defective apolipoprotein B-100 and occurrence of the familial hypercholesterolemia phenotype in the absence of an LDL-receptor defect within a Canadian kindred

7 January 2021

1 reference

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Incidence of the apolipoprotein B-3500 mutation in Denmark.

7 January 2021

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Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

7 January 2021

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

7 January 2021

1 reference

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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

7 January 2021

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[31] Detection and localization of single base changes by denaturing gradient gel electrophoresis

7 January 2021

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Clinically applicable mutation screening in familial hypercholesterolemia

7 January 2021

1 reference

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Detection of a single base deletion in codon 424 of the low density lipoprotein receptor gene in a Danish family with familial hypercholesterolemia.

7 January 2021

1 reference

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Genetic diagnosis with the denaturing gradient gel electrophoresis technique improves diagnostic precision in familial hypercholesterolemia

7 January 2021

1 reference

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Essential familial hypercholesterolemia and xanthomatosis; follow-up study of twelve Danish families.

7 January 2021

1 reference

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A polymorphism in exon 2 of the human LDL-receptor gene (LDLR).

7 January 2021

1 reference

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Four new nucleotide sequence polymorphisms in the LDL receptor gene detected by SSCP analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

A routine method for storing lymphocytes for repeated isolation of DNA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

A routine method for the establishment of permanent growing lymphoblastoid cell lines

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

AvaII polymorphism in the human LDL receptor gene

7 January 2021

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

7 January 2021

1 reference

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The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

Using information content and base frequencies to distinguish mutations from genetic polymorphisms in splice junction recognition sites.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

Four novel partial deletions of LDL-receptor gene in Italian patients with familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

Diagnosis of heterozygous familial hypercholesterolemia. DNA analysis complements clinical examination and analysis of serum lipid levels

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

Deletion of exon 15 of the LDL receptor gene is associated with a mild form of familial hypercholesterolemia. FH-Espoo

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

Evidence for a cholesterol-lowering gene in a French-Canadian kindred with familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

DNA screening of hyperlipidemic Afrikaners for familial hypercholesterolemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

Phenotypic presentation of the FH-Cincinnati type 5 low density lipoprotein receptor mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0021-9150%2896%2905967-9

10.1016/S0021-9150(96)05967-9

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9051200%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference