Associated Papers
Screening for Familial Hypercholesterolemia in Tunisia using Whole Exome Sequencing: Importance in diagnosis and healthcare management.
Mahjoub F et al.
La Tunisie Medicale, 2025
A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.
Jelassi A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.
Alharbi KK et al.
Genome Research, 2005
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