Mutations of the ANGPTL3 gene have been associated with a novel form of primary hypobetalipoproteinemia, the combined hypolipidemia (cHLP), characterized by low total cholesterol and low HDL-cholesterol levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in 2 large cohorts of 913 among American and Italian subjects with primary hypobetalipoproteinemia (total cholesterol<5th percentile).

Noto, D., Cefalù, A., Valenti, V., Fayer, F., Pinotti, E., Ditta, M., et al. (2012). Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. ARTERIOSCLEROSIS, THROMBOSIS, AND VASCULAR BIOLOGY, 32(3), 805-809 [10.1161/ATVBAHA.111.238766].

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia

Noto, D;CEFALU', Angelo Baldassare;VALENTI, Vincenza;FAYER, Francesca;SPINA, Rossella;AVERNA, Maurizio
2012

Abstract

Mutations of the ANGPTL3 gene have been associated with a novel form of primary hypobetalipoproteinemia, the combined hypolipidemia (cHLP), characterized by low total cholesterol and low HDL-cholesterol levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in 2 large cohorts of 913 among American and Italian subjects with primary hypobetalipoproteinemia (total cholesterol<5th percentile).
Settore MED/09 - Medicina Interna
Noto, D., Cefalù, A., Valenti, V., Fayer, F., Pinotti, E., Ditta, M., et al. (2012). Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia. ARTERIOSCLEROSIS, THROMBOSIS, AND VASCULAR BIOLOGY, 32(3), 805-809 [10.1161/ATVBAHA.111.238766].
File in questo prodotto:
File Dimensione Formato  
Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined hypolipidemia.pdf

non disponibili

Descrizione: Articolo
Dimensione 803.38 kB
Formato Adobe PDF
803.38 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10447/73838
Citazioni
  • ???jsp.display-item.citation.pmc??? ND
  • Scopus 62
  • ???jsp.display-item.citation.isi??? 60
social impact