Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation.

doi:10.1056/NEJM199011013231803

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Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation.

A A Inazu, M L ML Brown, C B CB Hesler, L B LB Agellon, J J Koizumi, K K Takata, Y Y Maruhama, H H Mabuchi and A R AR Tall N Engl J Med 323(18):1234-8 (1990) PMID 2215607

The plasma cholesteryl-ester transfer protein (CETP) catalyzes the transfer of cholesteryl esters from high-density lipoprotein (HDL) to other lipoproteins. We recently described a Japanese family with increased HDL levels and CETP deficiency due to a splicing defect of the CETP gene. To assess the frequency and phenotype of this condition, we screened 11 additional families with high HDL levels by means of a radioimmunoassay for CETP and DNA analysis.

DOI: 10.1056/NEJM199011013231803
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Increased high-density lipoprotein levels caused by a common cholesteryl-ester transfer protein gene mutation.

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