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Article

Fh-Souassi: a founder frameshift mutation in exon 10 of the LDL-receptor gene, associated with a mild phenotype in Tunisian families.

Atherosclerosis - 15 Feb 2001

Slimane M N, Lestavel S, Sun X, Maatouk F, Soutar A K, Ben Farhat M H, Clavey V, Benlian P, Hammami M

Abstract excerpt

Familial hypercholesterolemia (FH) has a higher prevalence in central Tunisia together with a milder clinical expression than in western countries. The molecular basis of FH in Tunisia remains unknown. Our aim was to identify FH-causing mutations in three unrelated families (21 subjects) from the area of Souassi (central Tunisia). In probands with a presentation of homozygous FH, the promoter and 18 exons of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 11257256
DOI: 10.1016/s0021-9150(00)00572-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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