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Article

A xanthomatosis-susceptibility gene may exist in a Syrian family with familial hypercholesterolemia.

European journal of human genetics : EJHG - 1 Jan 2000

Vergopoulos A, Bajari T, Jouma M, Knoblauch H, Aydin A, Bähring S, Mueller-Myhsok B, Dresel A, Joubran R, Luft F C, Schuster H

Abstract excerpt

Familial hypercholesterolemia (FH) is an autosomal-dominant inherited disorder characterized by high serum low-density lipoprotein (LDL)-cholesterol concentrations, xanthoma formation, and premature atherosclerosis. Homozygous individuals die of vascular disease as children or young adults; heterozygous persons are at high risk for premature cardiovascular death. Mutations in the LDL-receptor gene are responsible...

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PMID: 9412789

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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