Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

Maurizio Averna; Angelo Baldassare Cefalu'; Raffaele Fresa; Claudio Rabacchi; Alessio Signori; Sebastiano Calandra; Livia Pisciotta; Stefano Bertolini; Tommaso Fasano; Davide Noto

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

Maurizio Averna, Angelo Baldassare Cefalu', Raffaele Fresa, Claudio Rabacchi, Alessio Signori, Sebastiano Calandra, Livia Pisciotta, Stefano Bertolini, Tommaso Fasano, Davide Noto

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

Risultato della ricerca: Article

83 Citazioni (Scopus)

Abstract

To determine the spectrum of gene mutations and the genotype-phenotype correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy.

Lingua originale	English
pagine (da-a)	342-348
Numero di pagine	7
Rivista	ATHEROSCLEROSIS
Volume	227
Stato di pubblicazione	Published - 2013

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All Science Journal Classification (ASJC) codes

Cardiology and Cardiovascular Medicine

Cita questo

Averna, M., Cefalu', A. B., Fresa, R., Rabacchi, C., Signori, A., Calandra, S., Pisciotta, L., Bertolini, S., Fasano, T., & Noto, D. (2013). Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. ATHEROSCLEROSIS, 227, 342-348.

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. / Averna, Maurizio ; Cefalu', Angelo Baldassare; Fresa, Raffaele; Rabacchi, Claudio; Signori, Alessio; Calandra, Sebastiano; Pisciotta, Livia; Bertolini, Stefano; Fasano, Tommaso; Noto, Davide.

In: ATHEROSCLEROSIS, Vol. 227, 2013, pag. 342-348.

Risultato della ricerca: Article

Averna, Maurizio ; Cefalu', Angelo Baldassare ; Fresa, Raffaele ; Rabacchi, Claudio ; Signori, Alessio ; Calandra, Sebastiano ; Pisciotta, Livia ; Bertolini, Stefano ; Fasano, Tommaso ; Noto, Davide. / Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. In: ATHEROSCLEROSIS. 2013 ; Vol. 227. pagg. 342-348.

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abstract = "To determine the spectrum of gene mutations and the genotype-phenotype correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy.",

author = "Maurizio Averna and Cefalu', {Angelo Baldassare} and Raffaele Fresa and Claudio Rabacchi and Alessio Signori and Sebastiano Calandra and Livia Pisciotta and Stefano Bertolini and Tommaso Fasano and Davide Noto",

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AU - Averna, Maurizio

AU - Cefalu', Angelo Baldassare

AU - Fresa, Raffaele

AU - Rabacchi, Claudio

AU - Signori, Alessio

AU - Calandra, Sebastiano

AU - Pisciotta, Livia

AU - Bertolini, Stefano

AU - Fasano, Tommaso

AU - Noto, Davide

PY - 2013

Y1 - 2013

N2 - To determine the spectrum of gene mutations and the genotype-phenotype correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy.

AB - To determine the spectrum of gene mutations and the genotype-phenotype correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy.

UR - http://hdl.handle.net/10447/74486

M3 - Article

VL - 227

SP - 342

EP - 348

JO - ATHEROSCLEROSIS

JF - ATHEROSCLEROSIS

SN - 0021-9150

ER -

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