Article
Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.
Clinica chimica acta; international journal of clinical chemistry - 24 Dec 2012
Jelassi Awatef, Slimani Afef, Rabès Jean Pierre, Jguirim Imen, Abifadel Marianne, Boileau Catherine, Najah Mohamed, M'rabet Samir, Mzid Jawher, Slimane Mohamed Naceur, Varret Mathilde
Abstract excerpt
Autosomal Dominant Hypercholesterolemia (ADH) is due to defects in the LDL receptor gene (LDLR), the apolipoprotein B-100 gene (APOB) or the proprotein convertase subtilisin/kexin type 9 gene (PCSK9). The aim of this study was to identify and to characterize the ADH-causative mutations in two Tunisian families. Analysis of the LDLR gene was performed by direct sequencing, multiplex ligation-dependent probe...
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