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...
প্রধান লেখক: | 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 |
---|---|
বিন্যাস: | Journal article |
ভাষা: | English |
প্রকাশিত: |
2013
|
অনুরূপ উপাদানগুলি
অনুরূপ উপাদানগুলি
-
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
অনুযায়ী: Stitziel, N, অন্যান্য
প্রকাশিত: (2013) -
Meta-analysis of gene-level tests for rare variant association
অনুযায়ী: Liu, D, অন্যান্য
প্রকাশিত: (2014) -
Meta-analysis of gene-level tests for rare variant association.
অনুযায়ী: Liu, D, অন্যান্য
প্রকাশিত: (2014) -
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
অনুযায়ী: Do, R, অন্যান্য
প্রকাশিত: (2014) -
New insights into impaired muscle glycogen synthesis.
অনুযায়ী: Leif Groop, অন্যান্য
প্রকাশিত: (2008-01-01)