Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele

Carlo Maria Barbagallo, Maurizio Averna, Angelo Baldassare Cefalu', Nicoletta Vivona, Davide Noto, Rolleri, Livia Pisciotta, Guido, Fiore, Salvatore Travali, Stefano Bertolini, Maurizio R. Averna, Giovanni Emmanuele

Risultato della ricerca: Article

7 Citazioni (Scopus)

Abstract

Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cys112, Cys158). Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia.
Lingua originaleEnglish
pagine (da-a)93-99
Numero di pagine7
RivistaNMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
Volume13
Stato di pubblicazionePublished - 2003

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Hyperlipoproteinemia Type III
Apolipoproteins E
Apolipoprotein E2
Atherosclerosis
Alleles
Mutation
Genes
Carrier Proteins

All Science Journal Classification (ASJC) codes

  • Medicine (miscellaneous)
  • Cardiology and Cardiovascular Medicine
  • Nutrition and Dietetics
  • Endocrinology, Diabetes and Metabolism

Cita questo

@article{01638a0ad7f647d4a732ccca9ff85943,
title = "Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele",
abstract = "Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cys112, Cys158). Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia.",
author = "Barbagallo, {Carlo Maria} and Maurizio Averna and Cefalu', {Angelo Baldassare} and Nicoletta Vivona and Davide Noto and Rolleri and Livia Pisciotta and Guido and Fiore and Salvatore Travali and Stefano Bertolini and Averna, {Maurizio R.} and Giovanni Emmanuele",
year = "2003",
language = "English",
volume = "13",
pages = "93--99",
journal = "Nutrition, Metabolism and Cardiovascular Diseases",
issn = "0939-4753",
publisher = "Elsevier",

}

TY - JOUR

T1 - Two Italian kindreds carrying the Arg136-->Ser mutation of the Apo E gene: development of premature and severe atherosclerosis in the presence of epsilon 2 as second allele

AU - Barbagallo, Carlo Maria

AU - Averna, Maurizio

AU - Cefalu', Angelo Baldassare

AU - Vivona, Nicoletta

AU - Noto, Davide

AU - Rolleri, null

AU - Pisciotta, Livia

AU - Guido, null

AU - Fiore, null

AU - Travali, Salvatore

AU - Bertolini, Stefano

AU - Averna, Maurizio R.

AU - Emmanuele, Giovanni

PY - 2003

Y1 - 2003

N2 - Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cys112, Cys158). Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia.

AB - Type III hyperlipoproteinemia, or dysbetalipoproteinemia, is commonly associated with apolipoprotein E2 homozygosity (Cys112, Cys158). Apo E2-Christchurch (Arg136-->Ser), a rare mutation of the Apo E gene, located in the receptor-binding domain of the protein, has been found to be associated in the vast majority of cases of dysbetalipoproteinemia.

UR - http://hdl.handle.net/10447/185972

M3 - Article

VL - 13

SP - 93

EP - 99

JO - Nutrition, Metabolism and Cardiovascular Diseases

JF - Nutrition, Metabolism and Cardiovascular Diseases

SN - 0939-4753

ER -