Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus. (Q33681907)

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7 October 2019

title

Four DNA polymorphisms in the LDL receptor gene: their genetic relationship and use in the study of variation at the LDL receptor locus (English)

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7 October 2019

author name string

R Taylor

1

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7 October 2019

M Jeenah

2

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7 October 2019

M Seed

3

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7 October 2019

S Humphries

4

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7 October 2019

language of work or name

English

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publication date

1 October 1988

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Journal of Medical Genetics

7 October 2019

published in

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7 October 2019

volume

25

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7 October 2019

issue

10

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7 October 2019

page(s)

653-659

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"A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum

7 October 2019

cites work

1 reference

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Genetics of the low density lipoprotein receptor: III. Evidence for multiple normal alleles at the low density lipoprotein receptor locus

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

28 July 2018

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28 July 2018

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Role of the apolipoprotein E polymorphism in determining normal plasma lipid and lipoprotein variation

28 July 2018

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

28 July 2018

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

28 July 2018

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

28 July 2018

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Identification of deletions in the human low density lipoprotein receptor gene

28 July 2018

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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

28 July 2018

1 reference

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

28 July 2018

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Deletion of exon encoding cysteine-rich repeat of low density lipoprotein receptor alters its binding specificity in a subject with familial hypercholesterolemia

28 July 2018

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

28 July 2018

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Deletion in cysteine-rich region of LDL receptor impedes transport to cell surface in WHHL rabbit

28 July 2018

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DNA polymorphisms of the apolipoprotein AII and AI-CIII-AIV genes: a study in men selected for differences in high-density-lipoprotein cholesterol concentration

28 July 2018

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RFLP for the human LDL receptor gene (LDLR): Bst EII.

28 July 2018

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Human LDL receptor gene: two ApaLI RFLPs

28 July 2018

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AvaII polymorphism in the human LDL receptor gene

28 July 2018

1 reference

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

28 July 2018

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Pst I RFLP close to the LDL receptor gene

28 July 2018

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A DNA probe for the LDL receptor gene is tightly linked to hypercholesterolemia in a pedigree with early coronary disease

28 July 2018

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Double Msp I RFLP in the human LDL receptor gene

28 July 2018

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Detection of specific sequences among DNA fragments separated by gel electrophoresis

28 July 2018

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Diagnosing familial hypercholesterolaemia in childhood by measuring serum cholesterol

28 July 2018

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A common DNA polymorphism of the low-density lipoprotein (LDL) receptor gene and its use in diagnosis

28 July 2018

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12 December 2020

DNA sequence polymorphisms in the apolipoprotein A-I/C-III gene cluster

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12 December 2020

Common DNA polymorphism within coding sequence of apolipoprotein B gene associated with altered lipid levels

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12 December 2020

A DNA polymorphism in the human low-density lipoprotein receptor gene

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12 December 2020

The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum

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12 December 2020

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

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12 December 2020

Apolipoprotein B gene variants are involved in the determination of serum cholesterol levels: a study in normo- and hypelipidaemic individuals

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12 December 2020

Apolipoprotein E phenotypes and hyperlipidemia

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12 December 2020

The use of polymorphic DNA and protein markers for the third complement component for determining linkage of familial hypercholesterolaemia

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12 December 2020

Identifiers

DOI

10.1136/JMG.25.10.653

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2906372%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:2906372%20AND%20SRC:MED&resulttype=core&format=json

7 October 2019

PubMed publication ID

2906372

1 reference