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; Davide Noto; Maurizio Averna; Angelo Baldassare Cefalu'; Nicoletta Vivona; Nicoletta Vivona; Angelo B. Cefalù; null Travali; null Emmanuele; null Rolleri; Livia Pisciotta; null Guido; null Fiore; Giovanni Emmanuele; Davide Noto; Salvatore Travali; Stefano Bertolini; Maurizio R. Averna; Alberto Notarbartolo; Carlo M. Barbagallo

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

Promozione della Salute, Materno-Infantile, di Medicina Interna e Specialistica di Eccellenza “G. D’Alessandro”

Risultato della ricerca: Article › peer review

9 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 originale	English
pagine (da-a)	93-99
Numero di pagine	7
Rivista	NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES
Volume	13
Stato di pubblicazione	Published - 2003

All Science Journal Classification (ASJC) codes

???subjectarea.asjc.2700.2701???
???subjectarea.asjc.2700.2712???
???subjectarea.asjc.2900.2916???
???subjectarea.asjc.2700.2705???

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Barbagallo, C. M., Noto, D., Averna, M., Cefalu', A. B., Vivona, N., Vivona, N., Cefalù, A. B., Travali, Emmanuele, Rolleri, Pisciotta, L., Guido, Fiore, Emmanuele, G., Noto, D., Travali, S., Bertolini, S., Averna, M. R., Notarbartolo, A., & Barbagallo, C. M. (2003). 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. NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES, 13, 93-99.

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. / Barbagallo, Carlo Maria ; Noto, Davide ; Averna, Maurizio et al.

In: NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES, Vol. 13, 2003, pag. 93-99.

Risultato della ricerca: Article › peer review

Barbagallo, CM , Noto, D , Averna, M , Cefalu', AB , Vivona, N, Vivona, N, Cefalù, AB, Travali, Emmanuele, Rolleri, Pisciotta, L, Guido, Fiore, Emmanuele, G, Noto, D, Travali, S, Bertolini, S, Averna, MR, Notarbartolo, A & Barbagallo, CM 2003, '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', NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES, vol. 13, pagg. 93-99.

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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 Davide Noto and Maurizio Averna and Cefalu', {Angelo Baldassare} and Nicoletta Vivona and Nicoletta Vivona and Cefal{\`u}, {Angelo B.} and Travali and Emmanuele and Rolleri and Livia Pisciotta and Guido and Fiore and Giovanni Emmanuele and Davide Noto and Salvatore Travali and Stefano Bertolini and Averna, {Maurizio R.} and Alberto Notarbartolo and Barbagallo, {Carlo M.}",

year = "2003",

language = "English",

volume = "13",

pages = "93--99",

journal = "Nutrition, Metabolism and Cardiovascular Diseases",

issn = "0939-4753",

publisher = "Elsevier",

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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 - Noto, Davide

AU - Averna, Maurizio

AU - Cefalu', Angelo Baldassare

AU - Vivona, Nicoletta

AU - Cefalù, Angelo B.

AU - Travali, null

AU - Emmanuele, null

AU - Rolleri, null

AU - Pisciotta, Livia

AU - Guido, null

AU - Fiore, null

AU - Emmanuele, Giovanni

AU - Noto, Davide

AU - Travali, Salvatore

AU - Bertolini, Stefano

AU - Averna, Maurizio R.

AU - Notarbartolo, Alberto

AU - Barbagallo, Carlo M.

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 -

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

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