Article
The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.
Human mutation - 1 Jul 2009
Abifadel Marianne, Rabès Jean-Pierre, Jambart Sélim, Halaby Georges, Gannagé-Yared Marie-Hélène, Sarkis Antoine, Beaino Ghada, Varret Mathilde, Salem Nabiha, Corbani Sandra, Aydénian Hermine, Junien Claudine, Munnich Arnold, Boileau Catherine
Abstract excerpt
Autosomal dominant hypercholesterolemia (ADH), a major risk for coronary heart disease, is associated with mutations in the genes encoding the low-density lipoproteins receptor (LDLR), its ligand apolipoprotein B (APOB) or PCSK9 (Proprotein Convertase Subtilin Kexin 9). Familial hypercholesterolemia (FH) caused by mutation in the LDLR gene is the most frequent form of ADH. The incidence of FH is particularly high...
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