Plasma HDL pattern, cholesterol efflux and cholesterol loading capacity of serum in carriers of a novel missense variant (Gly176Trp) of endothelial lipase.
• Phenotypic description of family members with primary hyperalphalipoproteinemia. • Identification of a novel likely pathogenic variant of LIPG in three subjects. • Large HDL particles and reduced preβ-HDL content found in variant carriers. • Decreased ABCA1- and ABCG1-mediated cholesterol efflux c...
| Publicado en: | Journal of Clinical Lipidology Vol. 16; no. 5; pp. 694 - 704 |
|---|---|
| Autores principales: | , , , , , , , , |
| Formato: | research Journal Article |
| Publicado: |
Elsevier B.V.
Sep2022
|
| Acceso en línea: | Ver este registro en EBSCOhost |