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

Abstract:

OBJECTIVE - : 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 hypercholest...

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Publisher copy:
10.1161/ATVBAHA.113.302426

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Journal:
Arteriosclerosis, Thrombosis, and Vascular Biology
Volume:
33
Issue:
12
Pages:
2909-2914
Publication date:
2013-12-05
DOI:
EISSN:
1524-4636
ISSN:
1079-5642
URN:
uuid:e16456e5-c6fb-4df5-b5f6-93be3c5480b6
Source identifiers:
440981
Local pid:
pubs:440981

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