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Article

Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.

Clinica chimica acta; international journal of clinical chemistry - 2 May 2010

Jelassi Awatef, Slimani Afef, Jguirim Imen, Najah Mohamed, Abid AbdelMajid, Boughamoura Lamia, Mzid Jawhar, Fkih Moncef, Maatouk Fawzi, Rouis Mustapha, Varret Mathilde, Slimane Mohamed Naceur

Abstract excerpt

BACKGROUND: Autosomal Dominant Hypercholesterolemia (ADH) is an autosomal dominant disease caused by mutations in the low density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Xanthomas and coronary heart diseases (CHD) at an early age are the major clinical manifestations of the disease. METHODS: 16 families with familial...

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Source

Identifiers

PMID: 20144596
DOI: 10.1016/j.cca.2010.02.008

Genes

LDLR
APOB
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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