Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia (Q35607500)

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scientific article published on June 1986

Language	Label	Description	Also known as
English	Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia	scientific article published on June 1986

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

hypercholesterolemia

0 references

1 reference

based on heuristic

inferred from title

familial hypercholesterolemia

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Joseph L. Goldstein

3

object named as

J L Goldstein

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

author name string

M A Lehrman

1

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

D W Russell

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

M S Brown

4

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

language of work or name

0 references

publication date

1 June 1986

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Proceedings of the National Academy of Sciences of the United States of America

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Europe PubMed Central

PubMed publication ID

9 August 2017

83

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

3679-3683

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Genomic sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

Lambda Charon vectors (Ch32, 33, 34 and 35) adapted for DNA cloning in recombination-deficient hosts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

The Alu Family of Dispersed Repetitive Sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

Base sequence studies of 300 nucleotide renatured repeated human DNA clones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

The deletion in a type of δ0-β0-thalassaemia begins in an inverted AluI repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

cDNA cloning of the bovine low density lipoprotein receptor: feedback regulation of a receptor mRNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

The mutation and polymorphism of the human beta-globin gene and its surrounding DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

Polymorphism and evolution of Alu sequences in the human low density lipoprotein receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

Receptor-mediated endocytosis: concepts emerging from the LDL receptor system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

Changes in the frequency of specific transcripts during development of the pancreas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

Genetics of the LDL receptor: Evidence that the mutations affecting binding and internalization are allelic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

Analysis of a mutant strain of human fibroblasts with a defect in the internalization of receptor-bound low density lipoprotein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

12 July 2018

Unexpected relationships between four large deletions in the human beta-globin gene cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

25 September 2018

A gene deletion ending at the midpoint of a repetitive DNA sequence in one form of hereditary persistence of fetal haemoglobin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=323586

25 September 2018

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/3012527

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunoblot analysis of low density lipoprotein receptors in fibroblasts from subjects with familial hypercholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/3012527

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1073/PNAS.83.11.3679

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

1986PNAS...83.3679L

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

ResearchGate publication ID

0 references

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