OSBPL1A mutation: Role in dyslipidemias


  • Atherosclerosis
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Background and aims: Among subjects with high-density-lipoprotein cholesterol (HDL-C) below the 1st percentile in the general population, we identified a heterozygous variant OSBPL1A p.C39X encoding a short truncated protein fragment that co-segregated with low plasma HDL-C.

Methods: We investigat...