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Article

Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.

Atherosclerosis - 1 May 2012

Slimani Afef, Jelassi Awatef, Jguirim Imen, Najah Mohamed, Rebhi Lamia, Omezzine Asma, Maatouk Faouzi, Hamda Khaldoun Ben, Kacem Maha, Rabès Jean-Pierre, Abifadel Marianne, Boileau Catherine, Rouis Mustapha, Slimane Mohamed Naceur, Varret Mathilde

Abstract excerpt

BACKGROUND: Autosomal dominant hypercholesterolemia (ADH) is commonly caused by mutations in the low-density lipoprotein (LDL) receptor gene (LDLR), in the apolipoprotein B-100 gene (APOB), or in the proprotein convertase subtilisin kexine 9 gene (PCSK9). ADH subjects carrying a mutation in LDLR present highly variable plasma LDL-cholesterol (LDL-C). This variability might be due to environmental factors or the...

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Cholesterol, LDL
Frameshift Mutation
Hyperlipoproteinemia Type II
Proprotein Convertase 9

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Proprotein Convertases

Serine Endopeptidases

Source

Identifiers

PMID: 22417841
DOI: 10.1016/j.atherosclerosis.2012.02.018

Genes

PCSK9
LDLR
APOE
APOB

Variants

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Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.PMID 22417841Read ↗

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