Advanced

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

Stitziel, Nathan O; Fouchier, Sigrid W; Sjouke, Barbara; Peloso, Gina M; Moscoso, Alessa M; Auer, Paul L; Goel, Anuj; Gigante, Bruna; Barnes, Timothy A and Melander, Olle LU , et al. (2013) In Arteriosclerosis, Thrombosis and Vascular Biology 33(12). p.2909-2914
Abstract
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 explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. The aim of this study was to identify the molecular pathogenesis of autosomal recessive hypercholesterolemia in this family.
Please use this url to cite or link to this publication:
author
, et al. (More)
(Less)
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Arteriosclerosis, Thrombosis and Vascular Biology
volume
33
issue
12
pages
2909 - 2914
publisher
Lippincott Williams Wilkins Hagerstown, MD
external identifiers
  • wos:000329283900028
  • pmid:24072694
  • scopus:84888201938
ISSN
1524-4636
DOI
10.1161/ATVBAHA.113.302426
language
English
LU publication?
yes
id
428ee012-487e-4bea-8d58-ffe775d309f1 (old id 4065299)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/24072694?dopt=Abstract
date added to LUP
2013-10-03 22:25:12
date last changed
2019-05-21 01:24:44
@article{428ee012-487e-4bea-8d58-ffe775d309f1,
  abstract     = {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 explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. The aim of this study was to identify the molecular pathogenesis of autosomal recessive hypercholesterolemia in this family.},
  author       = {Stitziel, Nathan O and Fouchier, Sigrid W and Sjouke, Barbara and Peloso, Gina M and Moscoso, Alessa M and Auer, Paul L and Goel, Anuj and Gigante, Bruna and Barnes, Timothy A and Melander, Olle and Orho-Melander, Marju and Duga, Stefano and Sivapalaratnam, Suthesh and Nikpay, Majid and Martinelli, Nicola and Girelli, Domenico and Jackson, Rebecca D and Kooperberg, Charles and Lange, Leslie A and Ardissino, Diego and McPherson, Ruth and Farrall, Martin and Watkins, Hugh and Reilly, Muredach P and Rader, Daniel J and de Faire, Ulf and Schunkert, Heribert and Erdmann, Jeanette and Samani, Nilesh J and Charnas, Lawrence and Altshuler, David and Gabriel, Stacey and Kastelein, John J P and Defesche, Joep C and Nederveen, Aart J and Kathiresan, Sekar and Hovingh, G Kees},
  issn         = {1524-4636},
  language     = {eng},
  number       = {12},
  pages        = {2909--2914},
  publisher    = {Lippincott Williams  Wilkins Hagerstown, MD},
  series       = {Arteriosclerosis, Thrombosis and Vascular Biology},
  title        = {Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia.},
  url          = {http://dx.doi.org/10.1161/ATVBAHA.113.302426},
  volume       = {33},
  year         = {2013},
}