Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

Title
Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
Authors
Keywords
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Journal
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
Volume 33, Issue 12, Pages 2909-2914
Publisher
Ovid Technologies (Wolters Kluwer Health)
Online
2013-09-27
DOI
10.1161/atvbaha.113.302426

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