Associated Papers
Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype.
Do MTT et al.
Molecular Genetics and Metabolism Reports, 2025
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.
Jiang L et al.
Scientific Reports, 2016
Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
Mollaki V et al.
Atherosclerosis, 2014
Novel LDLR variants in patients with familial hypercholesterolemia: in silico analysis as a tool to predict pathogenic variants in children and their families.
Mollaki V et al.
Annals of Human Genetics, 2013
Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.
Mollaki V et al.
Journal of Clinical Lipidology, 0
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