Polymorphic DNA haplotypes at the LDL receptor locus (Q35247208)

7 August 2017

title

Polymorphic DNA haplotypes at the LDL receptor locus (English)

1 reference

7 August 2017

E Leitersdorf

1

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7 August 2017

A Chakravarti

series ordinal

2

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7 August 2017

H H Hobbs

series ordinal

3

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7 August 2017

publication date

1 March 1989

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American Journal of Human Genetics

7 August 2017

language of work or name

English

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published in

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7 August 2017

volume

44

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7 August 2017

issue

3

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7 August 2017

page(s)

409-421

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The Interaction of Selection and Linkage. I. General Considerations; Heterotic Models

7 August 2017

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The LDL receptor locus in familial hypercholesterolemia: Multiple mutations disrupt transport and processing of a membrane receptor

12 July 2018

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Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia

12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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12 July 2018

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Nonuniform recombination within the human beta-globin gene cluster

12 July 2018

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A locus on chromosome 11p with multiple restriction site polymorphisms

12 July 2018

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

12 July 2018

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Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 July 2018

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

12 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

12 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

12 July 2018

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A receptor-mediated pathway for cholesterol homeostasis

12 July 2018

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Multiple crm- mutations in familial hypercholesterolemia. Evidence for 13 alleles, including four deletions

12 July 2018

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

12 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

12 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

12 July 2018

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Evidence for increased recombination near the human insulin gene: implication for disease association studies

12 July 2018

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Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

12 July 2018

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

12 July 2018

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A strategy for using multiple linked markers for genetic counseling

12 July 2018

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The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes

12 July 2018

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Apolipoprotein genetic variation and human disease

12 July 2018

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Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria

12 July 2018

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Human LDL receptor gene: two ApaLI RFLPs

12 July 2018

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AvaII polymorphism in the human LDL receptor gene

12 July 2018

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

12 July 2018

1 reference

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Pst I RFLP close to the LDL receptor gene

12 July 2018

1 reference

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Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

12 July 2018

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Inferences about Linkage Disequilibrium

12 July 2018

1 reference

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Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715440

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1715440

Multiple origins of the sickle mutation: evidence from beta S globin gene cluster polymorphisms

26 September 2018

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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

1 reference

12 December 2020

DNA polymorphic patterns and haplotype arrangements of the apo A-1, apo C-III, apo A-IV gene cluster in different ethnic groups

1 reference

12 December 2020

Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria

1 reference

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

1 reference

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DNA polymorphism haplotypes of the human apolipoprotein APOA1-APOC3-APOA4 gene cluster

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New application for DNA polymorphism

1 reference

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

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Is the most frequent allele the oldest?

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

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A simple, rapid, and sensitive DNA assay procedure

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Identifiers

PMC publication ID

1715440

1 reference

7 August 2017

1 reference