Associated Papers
Homozygous familial hypercholesterolemia evaluation and survival single center study in Saudi Arabia: The HESSA registry.
Kholaif N et al.
Atherosclerosis, 2025
Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.
Madar L et al.
Genes, 2022
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
In Silico Approach to Investigate the Structural and Functional Attributes of Familial Hypercholesterolemia Variants Reported in the Saudi Population.
Morad FA et al.
Journal of Computational Biology : a Journal of Computational Molecular Cell Biology, 2018
The Arabic allele: a single base pair substitution activates a 10-base downstream cryptic splice acceptor site in exon 12 of LDLR and severely decreases LDLR expression in two unrelated Arab families with familial hypercholesterolemia.
Shawar SM et al.
Atherosclerosis, 2012
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M et al.
Human Mutation, 2010
Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.
Bamimore MA et al.
Journal of Clinical Lipidology, 0
Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort.
Alsagheir A et al.
Journal of Clinical Lipidology, 0
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