Dataset Information
Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia.
Ontology highlight
ABSTRACT:
SUBMITTER: Raal FJ
PROVIDER: S-EPMC4857223 | biostudies-literature | 2016 Jun
REPOSITORIES: biostudies-literature
Publications
Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia.
Data in brief 20160411
These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene (LDLR) functional status with these phenotypic data. A full description of these data is available in our recent study published in Atherosclerosis, "Phenotype Diversity Among Patients With Homozygous F ...[more]