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
Implementation of Exome Sequencing in Clinical Practice for Neurological Disorders.
Alvarez-Mora MI et al.
Genes, 2023
37107571 (PubMed )
Supplement: genes-14-00813-s001.zip › genes-2265012-supplementary.pdf
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
36325061 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.
Bourbon M et al.
Atherosclerosis, 2017
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
Etxebarria A et al.
Human Mutation, 2012
Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.
Alonso R et al.
Atherosclerosis, 2008
Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?
Blesa S et al.
Clinical Chemistry, 2006
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
Muller PY et al.
Atherosclerosis. Supplements, 2004
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
García-García AB et al.
Human Mutation, 2001
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting.
Martín-Campos JM et al.
Journal of Clinical Lipidology, 0
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