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The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia | Lipids in Health and Disease | Full Text
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Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR | Scientific Reports
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Diagram of LDLR gene showing the mutations identified in this study.... | Download Scientific Diagram
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Familial hypercholesterolemia: Detect, treat, and ask about family | Cleveland Clinic Journal of Medicine
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Increased LDL receptor by SREBP2 or SREBP2-induced lncRNA LDLR-AS promotes triglyceride accumulation in fish - ScienceDirect
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Missense Mutation in the LDLR Gene: A Wide Spectrum in the Severity of Familial Hypercholesterolemia | IntechOpen
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Spontaneous severe hypercholesterolemia and atherosclerosis lesions in rabbits with deficiency of low-density lipoprotein receptor (LDLR) on exon 7 - eBioMedicine
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Influence of LDL receptor gene mutations and the R3500Q mutation of the apoB gene on lipoprotein phenotype of familial hypercholesterolemic patients from a South European population | European Journal of Human Genetics
![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 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](https://ars.els-cdn.com/content/image/1-s2.0-S0888754315300446-gr3.jpg)
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
![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 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](https://www.mdpi.com/ijms/ijms-19-01676/article_deploy/html/images/ijms-19-01676-g001.png)
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
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Frontiers | The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype–Phenotype Correlations of the Disease
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Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor) | Arteriosclerosis, Thrombosis, and Vascular Biology
![Structure of LDL receptor. A) schematic representation of the human... | Download Scientific Diagram Structure of LDL receptor. A) schematic representation of the human... | Download Scientific Diagram](https://www.researchgate.net/publication/280694654/figure/fig1/AS:284569153622017@1444857981250/Structure-of-LDL-receptor-A-schematic-representation-of-the-human-LDLR-gene-exons-are.png)
Structure of LDL receptor. A) schematic representation of the human... | Download Scientific Diagram
![IJMS | Free Full-Text | Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION IJMS | Free Full-Text | Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION](https://www.mdpi.com/ijms/ijms-24-04471/article_deploy/html/images/ijms-24-04471-g001.png)
IJMS | Free Full-Text | Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION
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