Associated Papers
Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.
Al Mahdi HB et al.
Computational and Structural Biotechnology Journal, 2025
Untargeted metabolomics reveals distinct biomarkers and metabolic alterations in familial and non-genetic hypercholesterolemia in Saudi patients.
Al Mahdi HB et al.
Frontiers in Medicine, 2025
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
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Villéger L et al.
Human Mutation, 2002
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