Associated Papers
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.
Wong KHY et al.
Molecular Genetics & Genomic Medicine, 2019
An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.
Romano M et al.
Journal of Lipid Research, 2011
Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy.
Romano M et al.
Atherosclerosis, 2010
Scrambled isomers as key intermediates in the oxidative folding of ligand binding module 5 of the low density lipoprotein receptor.
Arias-Moreno X et al.
The Journal of Biological Chemistry, 2008
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