Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

نویسندگان

  • Frederick J. Raal
  • Barbara Sjouke
  • G. Kees Hovingh
  • Barton F. Isaac
چکیده

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 Familial Hypercholesterolemia: A Cohort Study" (Raal et al., 2016) [1].

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عنوان ژورنال:

دوره 7  شماره 

صفحات  -

تاریخ انتشار 2016