Associated Papers
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 2025
High-Throughput Microscopy Characterization of Rare LDLR Variants.
Graça R et al.
Jacc. Basic to Translational Science, 2023
Age, Origin and Functional Study of the Prevalent LDLR Mutation Causing Familial Hypercholesterolaemia in Gran Canaria.
Suárez NM et al.
International Journal of Molecular Sciences, 2023
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Cuchel M et al.
Journal of the American Heart Association, 2023
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.
Banerjee P et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
p.(Asp47Asn) and p.(Thr62Met): non deleterious LDL receptor missense variants functionally characterized in vitro.
Benito-Vicente A et al.
Scientific Reports, 2018
Replacement of cysteine at position 46 in the first cysteine-rich repeat of the LDL receptor impairs apolipoprotein recognition.
Benito-Vicente A et al.
Plos One, 2018
Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.
Di Taranto MD et al.
Scientific Reports, 2017
Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.
Jiang L et al.
Atherosclerosis, 2017
The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.
Benito-Vicente A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015
Activity-associated effect of LDL receptor missense variants located in the cysteine-rich repeats.
Etxebarria A et al.
Atherosclerosis, 2015
Functional characterization and classification of frequent low-density lipoprotein receptor variants.
Etxebarria A et al.
Human Mutation, 2015
A DNA microarray for the detection of point mutations and copy number variation causing familial hypercholesterolemia in Europe.
Stef MA et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Functional characterization of splicing and ligand-binding domain variants in the LDL receptor.
Etxebarria A et al.
Human Mutation, 2012
Identification of a novel LDLR mutation (c.261_262invGA, p.Trp87X): Importance of specifying DNA and protein mutations.
Ng D et al.
Atherosclerosis, 2010