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...

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Egile Nagusiak:	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
Formatua:	Journal article
Hizkuntza:	English
Argitaratua:	2013

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. nork 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

Argitaratua 2013

Journal article

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

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