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Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia.Stitziel, NO, Fouchier SW, Sjouke B., Peloso GM, Moscoso AM, Auer PL, Goel A., Gigante B., Barnes TA, Melander O., Orho-Melander M., Duga S., Sivapalaratnam S., Nikpay M., Martinelli N., Girelli D., Jackson RD, Kooperberg C., Lange LA, Ardissino D., et al. Arteriosclerosis, thrombosis, and vascular biology, 2013/09/26, (2013) Read More / View Supplemental Materials
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