Ferreira, Maria SimõesLarrea-Sebal, AsierMartín, CésarApellaniz-Ruiz, MariaErnaga-Lorea, AnderBourbon, MafaldaAlves, Ana Catarina2026-03-042026-03-042025-11-20http://hdl.handle.net/10400.18/11124Abstract disponível em: Sociedade Portuguesa de Genética Humana. Livro de Resumos. 29. Annual Meeting; 2025 Nov 20-22; Coimbra, Portugal. p. 74.Familial hypercholesterolaemia ( is a condition caused by pathogenic variants in LDLR APOB or PCSK 9 genes, characterised by high levels of LDL cholesterol and premature cardiovascular disease ( APOB variants account for 5 10 of FH cases, most being due to missense variants however, this can be higher than initially estimated Although truncating variants are typically associated with hypocholesterolaemia phenotype, some have been reported in clinical FH patients and can be the cause of diseaseThis study is part of the PerMedFH project and aimed to functionally characterise four nonsense APOB variants in exon 29 identified in patients with a clinical diagnosis of FH, emphasising on their molecular consequences and possible contribution to the FH phenotype. This study is part of the PerMedFH project and aimed to functionally characterise four nonsense APOB variants in exon 29 identified in patients with a clinical diagnosis of FH, emphasising on their molecular consequences and possible contribution to the FH phenotypeengFamilial HypercholesterolemiaAPOB VariantsNonsense variantsFunctional StudiesDoenças Cardio e Cérebro-vascularesconference object