IJMS | Free Full-Text | Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION
sgugenetics / Mechanisms of Disease: Genetic Causes
Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children - ScienceDirect
Missense Mutation in the LDLR Gene: A Wide Spectrum in the Severity of Familial Hypercholesterolemia | IntechOpen
Frontiers | Mutational Spectrum of LDLR and PCSK9 Genes Identified in Iranian Patients With Premature Coronary Artery Disease and Familial Hypercholesterolemia
Functional analysis of four LDLR 5′UTR and promoter variants in patients with familial hypercholesterolaemia | European Journal of Human Genetics
Frontiers | Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia
LDLR gene. a. Location of the LDLR gene, the short (p) arm of... | Download Scientific Diagram
Genes | Free Full-Text | The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia
Low-density lipoprotein receptor gene family - Wikipedia
Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor) | Arteriosclerosis, Thrombosis, and Vascular Biology
LDLR/LDL Receptor Gene Sequence, Family, Fuction and Expression Information | Sino Biological
Schematic representation of the LDLR gene and LDLR protein... | Download Scientific Diagram
IJMS | Free Full-Text | Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants
a Illustrates the five different classes for defects of LDL receptor... | Download Scientific Diagram
sgugenetics / Mechanisms of Disease: Genetic Causes
Diagram of LDLR gene showing the mutations identified in this study.... | Download Scientific Diagram
Analysis of mutations causing familial hypercholesterolaemia in black South African patients of different ancestry
Familial hypercholesterolemia: Detect, treat, and ask about family | Cleveland Clinic Journal of Medicine
Frontiers | The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype–Phenotype Correlations of the Disease
HoFH | About HoFH - Genetics and Pathogenesis
The LDL Receptor Gene Family: Neuron
Piperine Induces Hepatic Low-Density Lipoprotein Receptor Expression through Proteolytic Activation of Sterol Regulatory Element-Binding Proteins | PLOS ONE
Increased LDL receptor by SREBP2 or SREBP2-induced lncRNA LDLR-AS promotes triglyceride accumulation in fish - ScienceDirect
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR | Scientific Reports