Associated Papers
Clinical exome sequencing identifies novel gene variants associated with ischemic stroke in the Saudi Tabuk population.
Hamadi A et al.
Frontiers in Human Neuroscience, 2025
High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico.
Rodríguez-Gutiérrez PG et al.
Archives of Medical Research, 2024
Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor.
Pussadhamma B et al.
Scientific Reports, 2024
LDLR c.415G > A causes familial hypercholesterolemia by weakening LDLR binding to LDL.
Wang K et al.
Lipids in Health and Disease, 2024
LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.
Konečná K et al.
Lipids in Health and Disease, 2024
Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia.
Lv X et al.
Lipids in Health and Disease, 2023
Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2023
The LDLR c.501C>A is a disease-causing variant in familial hypercholesterolemia.
Hu H et al.
Lipids in Health and Disease, 2021
Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.
Vlad CE et al.
Journal of Clinical Medicine, 2021
Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia.
Hu H et al.
Frontiers in Genetics, 2021
A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.
Gretarsdottir S et al.
Plos Genetics, 2015
Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.
Al-Allaf FA et al.
Gene, 2015
Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).
Cymbron T et al.
Meta Gene, 2014
Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.
van Zyl T et al.
Journal of Human Genetics, 2014
Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.
O'Rawe JA et al.
Peerj, 2013
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
Al-Khateeb A et al.
Bmc Medical Genetics, 2011
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Genetic and polygenic contributions to familial hypercholesterolemia in Thailand: Implications for diagnosis and lipid management.
Pasookhush P et al.
Journal of Clinical Lipidology, 0