Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia (Q34119817)

31 July 2017

title

Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia (English)

1 reference

31 July 2017

Ng DS

1

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31 July 2017

Leiter LA

2

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31 July 2017

Vezina C

3

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31 July 2017

Connelly PW

4

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31 July 2017

Hegele RA

5

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31 July 2017

language of work or name

English

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publication date

1 January 1994

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Journal of Clinical Investigation

31 July 2017

published in

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31 July 2017

volume

93

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31 July 2017

issue

1

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31 July 2017

page(s)

223-229

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Characterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux

31 July 2017

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5 July 2018

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5 July 2018

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Associations of high-density lipoprotein subclasses and apolipoproteins with ischemic heart disease and coronary atherosclerosis

5 July 2018

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Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein

5 July 2018

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DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis

5 July 2018

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5 July 2018

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High-density lipoprotein inhibits the oxidative modification of low-density lipoprotein

5 July 2018

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5 July 2018

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5 July 2018

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A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity

5 July 2018

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5 July 2018

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Apolipoprotein A-I deficiency due to a codon 84 nonsense mutation of the apolipoprotein A-I gene

5 July 2018

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A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities

5 July 2018

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Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene

5 July 2018

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Cholesterol efflux from cells to immunopurified subfractions of human high density lipoprotein: LP-AI and LP-AI/AII

5 July 2018

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Effect of apolipoprotein activators on the specificity of lecithin:cholesterol acyltransferase: determination of cholesteryl esters formed in A-I/C-III deficiency

5 July 2018

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Characterization of apoA- and apoB-containing lipoprotein particles in a variant of familial apoA-I deficiency with planar xanthoma: the metabolic significance of LP-A-II particles

5 July 2018

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An apolipoprotein CII mutation, CIILys19----Thr' identified in patients with hyperlipidemia

5 July 2018

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Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met)

5 July 2018

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Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency

5 July 2018

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Marked reduction of high density lipoprotein cholesterol in mice genetically modified to lack apolipoprotein A-I

5 July 2018

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Binding of transition metals by apolipoprotein A-I-containing plasma lipoproteins: inhibition of oxidation of low density lipoproteins

5 July 2018

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Expression of human apolipoprotein A-II and its effect on high density lipoproteins in transgenic mice

5 July 2018

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Determination of Plasma Lipid Profiles by Automated Gas Chromatography and Computerized Data Analysis

5 July 2018

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Identification of lipoprotein families in a variant of human plasma apolipoprotein A deficiency

5 July 2018

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Agarose gel electrophoresis of plasma lipoproteins using the Durrum cell

5 July 2018

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Characterization of lipoprotein particles isolated by immunoaffinity chromatography. Particles containing A-I and A-II and particles containing A-I but no A-II

5 July 2018

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12 December 2020

Quantification of human serum apolipoprotein AI by enzyme immunoassay

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12 December 2020

Deficiency of apolipoproteins A-I and C-III and severe coronary heart disease

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12 December 2020

Cholesterol efflux from cultured adipose cells is mediated by LpAI particles but not by LpAI:AII particles

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12 December 2020

Corneal opacity in familial plasma cholesterol ester deficiency

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12 December 2020

Relation of serum total cholesterol and high-density lipoprotein cholesterol percentage to the incidence of definite coronary events: twenty-year follow-up of the Donolo-Tel Aviv Prospective Coronary Artery Disease Study

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12 December 2020

Sodium dodecyl sulfate-glycerol polyacrylamide slab gel electrophoresis for the resolution of apolipoproteins

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12 December 2020

Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11

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12 December 2020

Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI

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12 December 2020

A mutation in apolipoprotein A-I in the Iowa type of familial amyloidotic polyneuropathy

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12 December 2020

A mutation in the human apolipoprotein A-I gene. Dominant effect on the level and characteristics of plasma high density lipoproteins

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12 December 2020

Joint effects of serum triglyceride and LDL cholesterol and HDL cholesterol concentrations on coronary heart disease risk in the Helsinki Heart Study. Implications for treatment

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12 December 2020

Identifiers

DOI

10.1172/JCI116949

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31 July 2017

1 reference

31 July 2017

1 reference