Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia
- Noto, D
- Pinotti, E
- Ditta, M
- Vigna, G
- Yue, P
- Kathiresan, S
- Tarugi, P
- CEFALU', Angelo Baldassare
- VALENTI, Vincenza
- FAYER, Francesca
- SPINA, Rossella
- AVERNA, Maurizio
Publication date
January 2012
DOI Publisher
country:US ISSN
1079-5642 Citation count (estimate)
40Abstract
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)
Add to ORKG