A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia | Zendy

Angelo B. Cefalù | Zendy; James P. Pirruccello | Zendy; Davide Noto | Zendy; Stacey Gabriel | Zendy; Vincenza Valenti | Zendy; Namrata Gupta | Zendy; Rossella Spina | Zendy; Patrizia Tarugi | Zendy; Sekar Kathiresan | Zendy; Maurizio Averna | Zendy

Open Access

A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia

Author(s) -

Angelo B. Cefalù,

James P. Pirruccello,

Davide Noto,

Stacey Gabriel,

Vincenza Valenti,

Namrata Gupta,

Rossella Spina,

Patrizia Tarugi,

Sekar Kathiresan,

Maurizio Averna

Publication year - 2013

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.112.301101

Subject(s) - hypocholesterolemia , exome sequencing , steatosis , cancer , mutation , biology , genetics , apolipoprotein b , exome , medicine , cancer research , gene , cholesterol

In familial hypobetalipoproteinemia, fatty liver is a characteristic feature, and there are several reports of associated cirrhosis and hepatocarcinoma. We investigated a large kindred in which low-density lipoprotein cholesterol, fatty liver, and hepatocarcinoma displayed an autosomal dominant pattern of inheritance.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research