A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews (Q38321161)

2 September 2017

A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews (English)

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familial hypercholesterolemia

2 September 2017

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E Leitersdorf

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2 September 2017

A Reshef

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2 September 2017

V Meiner

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E J Dann

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Y Beigel

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2 September 2017

F G van Roggen

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D R van der Westhuyzen

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G A Coetzee

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1 March 1993

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91

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141-147

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https://scigraph.springernature.com/pub.10.1007/bf00222714

2 September 2017

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cites work

Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

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12 December 2020

Ammonium chloride causes reversible inhibition of low density lipoprotein receptor recycling and accelerates receptor degradation.

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12 December 2020

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

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12 December 2020

A nonsense mutation in the LDL receptor gene leads to familial hypercholesterolemia in the Druze sect

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12 December 2020

Monoclonal antibodies to the low density lipoprotein receptor as probes for study of receptor-mediated endocytosis and the genetics of familial hypercholesterolemia

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12 December 2020

Different combinations of cysteine-rich repeats mediate binding of low density lipoprotein receptor to two different proteins

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12 December 2020

A receptor-mediated pathway for cholesterol homeostasis

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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

A common Lithuanian mutation causing familial hypercholesterolemia in Ashkenazi Jews

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12 December 2020

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

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12 December 2020

Polymorphic DNA haplotypes at the LDL receptor locus

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12 December 2020

Protein degradation in the endoplasmic reticulum

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12 December 2020

2 New M13 vectors for cloning

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12 December 2020

Rapid and efficient site-specific mutagenesis without phenotypic selection

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12 December 2020

Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor.

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12 December 2020

DNA sequencing with chain-terminating inhibitors

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12 December 2020

Haplotype analysis at the low density lipoprotein receptor locus: application to the study of familial hypercholesterolemia in Israel

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12 December 2020

Ascorbate increases the number of low density lipoprotein receptors in cultured arterial smooth muscle cells

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12 December 2020

The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Deletion of clustered O-linked carbohydrates does not impair function of low density lipoprotein receptor in transfected fibroblasts

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12 December 2020

Protein folding in the cell

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12 December 2020

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

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12 December 2020

Receptor-mediated endocytosis of low density lipoprotein: somatic cell mutants define multiple genes required for expression of surface-receptor activity

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12 December 2020

19 Receptor-mediated endocytosis of low-density lipoprotein in cultured cells

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12 December 2020

Self-association of the low density lipoprotein receptor mediated by the cytoplasmic domain.

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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

Visualization of lipoprotein receptors by ligand blotting

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Brefeldin A, a drug that blocks secretion, prevents the assembly of non-clathrin-coated buds on Golgi cisternae

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12 December 2020

Diverse effect of ethnicity on plasma lipoprotein[a] levels in heterozygote patients with familial hypercholesterolemia

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12 December 2020

The mysteries of lipoprotein(a)

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12 December 2020

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

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12 December 2020

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype

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12 December 2020

Identifiers

DOI

10.1007/BF00222714

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Dimensions Publication ID

2 September 2017

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