Exome Sequencing and Directed Clinical Phenotyping Diagnose...

Arteriosclerosis Thrombosis and Vascular Biology 2013 / 12 Vol. 33; Iss. 12

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

Stitziel, N. O., Fouchier, S. W., Sjouke, B., Peloso, G. M., Moscoso, A. M., Auer, P. L., Goel, A., Gigante, B., Barnes, T. A., Melander, O., Orho-Melander, M., Duga, S., Sivapalaratnam, S., Nikpay, M
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Volume:
33
Language:
english
Journal:
Arteriosclerosis, Thrombosis, and Vascular Biology
DOI:
10.1161/ATVBAHA.113.302426
Date:
December, 2013
File:
PDF, 1015 KB
english, 2013
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