Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia.
Författare
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.
Avdelning/ar
Publiceringsår
2013
Språk
Engelska
Sidor
2909-2914
Publikation/Tidskrift/Serie
Arteriosclerosis, Thrombosis and Vascular Biology
Volym
33
Issue
12
Länkar
Dokumenttyp
Artikel i tidskrift
Förlag
Lippincott Williams & Wilkins
Ämne
- Cardiac and Cardiovascular Systems
Status
Published
Forskningsgrupp
- Cardiovascular Research - Hypertension
- Diabetes - Cardiovascular Disease
ISBN/ISSN/Övrigt
- ISSN: 1524-4636