Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia
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...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Journal article |
Language: | English |
Published: |
2013
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