Associated Papers
Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB et al.
Gene, 2023
Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.
Kim H et al.
Journal of Atherosclerosis and Thrombosis, 2022
GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study.
Kim H et al.
Scientific Reports, 2020
33168860 (PubMed )
Supplement: 41598_2020_75901_MOESM1_ESM.pdf
The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.
Jiang L et al.
Scientific Reports, 2016
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs
Characterization of the unique Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia.
Jiang L et al.
Journal of Clinical Lipidology, 0
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