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Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes.

Atherosclerosis - 1 Sept 2005

Pisciotta Livia, Calabresi Laura, Lupattelli Graziana, Siepi Donatella, Mannarino Massimo Raffaele, Moleri Elsa, Bellocchio Antonella, Cantafora Alfredo, Tarugi Patrizia, Calandra Sebastiano, Bertolini Stefano

Abstract excerpt

We studied a three generation family with co-dominant monogenic hypercholesterolemia and hypoalphalipoproteinemia. The proband, a 48 year-old male, was found to be heterozygous for a previously reported mutation in LDL receptor (LDL-R) gene (IVS15-3 c>a) and a novel mutation in exon 6 of lecithin cholesterol acyltransferase (LCAT) gene (c.803 G>A) causing a non-synonymous amino acid substitution (p.R244H). These...

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Identifiers

PMID: 16115486
DOI: 10.1016/j.atherosclerosis.2005.01.048

Genes

LCAT

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Combined monogenic hypercholesterolemia and hypoalphalipoproteinemia caused by mutations in LDL-R and LCAT genes.PMID 16115486Read ↗

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