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

被引：1
作者：
Raal, Frederick J. [1 ]
Sjouke, Barbara [2 ]
Hovingh, G. Kees [3 ]
Isaac, Barton F. [4 ]
机构：
[1] Univ Witwatersrand, Fac Hlth Sci, Dept Med, Johannesburg, South Africa
[2] Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, POB 22660, NL-1100 DD Amsterdam, Netherlands
[3] Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, Meibergdreef 9, NL-1100 DD Amsterdam, Netherlands
[4] Sanofi Genzyme, Med Affairs, 500 Kendall St, Cambridge, MA 02142 USA
来源：
DATA IN BRIEF | 2016年 / 7卷
关键词：
Homozygous familial hypercholesterolemia; Cholesterol; Phenotype;
D O I：
10.1016/j.dib.2016.04.004
中图分类号：
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
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]. (C) 2016 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY license.
引用
收藏
页码：1458 / 1462
页数：5
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