Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia.
Author
Summary, in English
Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. The aim of this study was to identify the molecular pathogenesis of autosomal recessive hypercholesterolemia in this family.
Department/s
Publishing year
2013
Language
English
Pages
2909-2914
Publication/Series
Arteriosclerosis, Thrombosis and Vascular Biology
Volume
33
Issue
12
Links
Document type
Journal article
Publisher
Lippincott Williams & Wilkins
Topic
- Cardiac and Cardiovascular Systems
Status
Published
Research group
- Cardiovascular Research - Hypertension
- Diabetes - Cardiovascular Disease
ISBN/ISSN/Other
- ISSN: 1524-4636