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Article

Novel mutations of CETP gene in Italian subjects with hyperalphalipoproteinemia.

Atherosclerosis - 1 May 2009

Cefalù Angelo B, Noto Davide, Magnolo Lucia, Pinotti Elisa, Gomaraschi Monica, Martini Scipione, Vigna Giovanni B, Calabresi Laura, Tarugi Patrizia, Averna Maurizio R

Abstract excerpt

Cholesteryl ester transfer protein (CETP) is a plasma glycoprotein that catalyses the transfer of cholesteryl esters from HDL to the other plasma lipoproteins. Genetic deficiency of CETP is one of the known causes of elevation of plasma HDL-C (primary hyperalphalipoproteinemia, HALP). We sequenced CETP gene in a group of 24 Italian subjects with primary HALP (HDL-C>80 mg/dl) suspected to have CETP deficiency. Two...

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Identifiers

PMID: 18926541
DOI: 10.1016/j.atherosclerosis.2008.08.031

Genes

CETP

Variants

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