Article
A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.
Clinica chimica acta; international journal of clinical chemistry - 1 Jun 2008
Jelassi A, Najah M, Jguirim I, Maatouk F, Lestavel S, Laroussi O S, Rouis M, Boileau C, Rabès J P, Varret M, Slimane M N
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by mutations in either the low-density lipoprotein receptor, the apolipoprotein B or the proprotein convertase subtilisin/kexin type 9 genes. It is characterized by a high concentration of low-density lipoprotein (LDL), which frequently gives rise to premature coronary disease. In this study, we report a novel splice...
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