A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer and hypocholesterolemia

OBJECTIVE: In familial hypobetalipoproteinemia (FHBL), 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 (LDL) cholesterol, fatty liver and hepatocarcinoma displayed an...

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Main Authors: Cefalù, Angelo B, Pirruccello, James P, Noto, Davide, Gabriel, Stacey, Valenti, Vincenza, Gupta, Namrata, Spina, Rossella, Tarugi, Patrizia, Kathiresan, Sekar, Averna, Maurizio R
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3870266/
https://ncbi.nlm.nih.gov/pubmed/23723369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/ATVBAHA.112.301101
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