Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency (Q44485565)

3 December 2017

title

Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency (English)

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5

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Livia Pisciotta

1

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3 December 2017

Roberto Miccoli

2

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3 December 2017

Alfredo Cantafora

3

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Paola Alessandrini

6

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3 December 2017

Gabriele Bittolo Bon

7

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3 December 2017

Guido Franceschini

8

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3 December 2017

Claudio Cortese

9

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Sebastiano Calandra

10

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3 December 2017

Stefano Bertolini

11

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3 December 2017

publication date

1 April 2003

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3 December 2017

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3 December 2017

volume

167

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3 December 2017

issue

2

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3 December 2017

page(s)

335-345

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Epidemiologic evidence for high-density lipoprotein cholesterol as a risk factor for coronary artery disease

3 December 2017

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

7 January 2021

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High density lipoprotein deficiency with xanthomas. A defect in reverse cholesterol transport caused by a point mutation in the apolipoprotein A-I gene.

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

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A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas

7 January 2021

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Screening for naturally occurring apolipoprotein A-I variants: apo A-I(?K107) is associated with low HDL-cholesterol levels in men but not in women

7 January 2021

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A New Case of ApoA-I Deficiency Showing Codon 8 Nonsense Mutation of the ApoA-I Gene Without Evidence of Coronary Heart Disease

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Apolipoprotein A-I deficiency. Biochemical and metabolic characteristics

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Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease

7 January 2021

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Compound heterozygosity for an apolipoprotein A1 gene promoter mutation and a structural nonsense mutation with apolipoprotein A1 deficiency

7 January 2021

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Frequent occurrence of hypoalphalipoproteinemia due to mutant apolipoprotein A-I gene in the population: a population-based survey

7 January 2021

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The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide

7 January 2021

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Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia

7 January 2021

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The effects of altered apolipoprotein A-I structure on plasma HDL concentration

7 January 2021

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High density lipoproteins and arteriosclerosis. Role of cholesterol efflux and reverse cholesterol transport

7 January 2021

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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

7 January 2021

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A cysteine-containing truncated apo A-I variant associated with HDL deficiency

7 January 2021

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A novel homozygous missense mutation in the apo A-I gene with apo A-I deficiency

7 January 2021

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A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease

7 January 2021

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Fatty liver in heterozygous hypobetalipoproteinemia caused by a novel truncated form of apolipoprotein B

7 January 2021

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Triglycerides Are Major Determinants of Cholesterol Esterification/Transfer and HDL Remodeling in Human Plasma

7 January 2021

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Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene

7 January 2021

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Haplotype analysis of two APOA1/MspI polymorphisms in relation to plasma levels of apo A-I and HDL-cholesterol

7 January 2021

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Coronary artery disease and dyslipidemia within Europe: genetic variants in lipid transport gene loci in German subjects with premature coronary artery disease

7 January 2021

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Lipid-free structure and stability of apolipoprotein A-I: probing the central region by mutation

7 January 2021

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Evidence for differential effects of apoE3 and apoE4 on HDL metabolism

7 January 2021

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Autosomal dominant hypoalphalipoproteinemia due to a completely defective apolipoprotein A-I gene.

7 January 2021

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Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.

7 January 2021

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Apolipoprotein A-IFin. Dominantly inherited hypoalphalipoproteinemia due to a single base substitution in the apolipoprotein A-I gene

7 January 2021

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Apolipoprotein A-IFIN (Leu159-->Arg) mutation affects lecithin cholesterol acyltransferase activation and subclass distribution of HDL but not cholesterol efflux from fibroblasts

7 January 2021

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Apolipoprotein A-I(Zavalla) (Leu159-->Pro): HDL cholesterol deficiency in a kindred associated with premature coronary artery disease

7 January 2021

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Enhanced fractional catabolic rate of apo A-I and apo A-II in heterozygous subjects for apo A-I(Zaragoza) (L144R).

7 January 2021

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Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

7 January 2021

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10.1016/S0021-9150(03)00020-0

7 January 2021

Identifiers

DOI

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3 December 2017

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