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

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

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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...

書誌詳細
主要な著者:	Stitziel, N, Fouchier, S, Sjouke, B, Peloso, G, Moscoso, A, Auer, P, Goel, A, Gigante, B, Barnes, T, Melander, O, Orho-Melander, M, Duga, S, Sivapalaratnam, S, Nikpay, M, Martinelli, N, Girelli, D, Jackson, R, Kooperberg, C, Lange, L, Ardissino, D, McPherson, R, Farrall, M, Watkins, H, Reilly, M, Rader, D
フォーマット:	Journal article
言語:	English
出版事項:	2013

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