(Q68434690)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3391282%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

title

The Finnish type of the LDL receptor gene mutation: molecular characterization of the deleted gene and the corresponding mRNA (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3391282%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

author name string

Aalto-Setälä K

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3391282%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

language of work or name

English

0 references

publication date

1 July 1988

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3391282%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3391282%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

volume

234

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3391282%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3391282%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

page(s)

411-416

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3391282%20AND%20SRC:MED&resulttype=core&format=json

A receptor-mediated pathway for cholesterol homeostasis

24 September 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

Coronary artery disease in 116 kindred with familial type II hyperlipoproteinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

The human LDL receptor: a cysteine-rich protein with multiple Alu sequences in its mRNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

Internalization-defective LDL receptors produced by genes with nonsense and frameshift mutations that truncate the cytoplasmic domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

The J.D. mutation in familial hypercholesterolemia: amino acid substitution in cytoplasmic domain impedes internalization of LDL receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

Duplication of seven exons in LDL receptor gene caused by Alu-Alu recombination in a subject with familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

Deletion in the gene for the low-density-lipoprotein receptor in a majority of French Canadians with familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

New variant of low density lipoprotein receptor gene. FH-Tonami

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

Identification of a deletion in the LDL receptor gene. A Finnish type of mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

pBR322 restriction map derived from the DNA sequence: accurate DNA size markers up to 4361 nucleotide pairs long

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

The purification of poly(a)-containing RNA by affinity chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

The metabolism in vitro of human low-density lipoprotein by the human hepatoma cell line Hep G2

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

Catabolism of human low density lipoproteins by human hepatoma cell line HepG2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

A RFLP associated with the low-density lipoprotein receptor gene (LDLR).

21 January 2018

1 reference

https://api.crossref.org/works/10.1016%2F0014-5793%2888%2980127-3

10.1016/0014-5793(88)80127-3

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3391282%20AND%20SRC:MED&resulttype=core&format=json

24 September 2019

1 reference