Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia | Zendy

Davide Noto | Zendy; Angelo B. Cefalù | Zendy; Vincenza Valenti | Zendy; Francesca Fayer | Zendy; Enrico Pinotti | Zendy; M. Ditta | Zendy; Rossella Spina | Zendy; Giovanni Battista Vigna | Zendy; Pin Yue | Zendy; Sekar Kathiresan | Zendy; Patrizia Tarugi | Zendy; Maurizio Averna | Zendy

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Prevalence of ANGPTL3 and APOB Gene Mutations in Subjects With Combined Hypolipidemia

Author(s) -

Davide Noto,

Angelo B. Cefalù,

Vincenza Valenti,

Francesca Fayer,

Enrico Pinotti,

M. Ditta,

Rossella Spina,

Giovanni Battista Vigna,

Pin Yue,

Sekar Kathiresan,

Patrizia Tarugi,

Maurizio Averna

Publication year - 2012

Publication title -

arteriosclerosis thrombosis and vascular biology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.007

H-Index - 270

eISSN - 1524-4636

pISSN - 1079-5642

DOI - 10.1161/atvbaha.111.238766

Subject(s) - medicine , apolipoprotein b , endocrinology , cholesterol , heterozygote advantage , missense mutation , phenotype , genetics , gene , biology , allele

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).

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