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

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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.

Detaljer

Författare
  • Nathan O Stitziel
  • Sigrid W Fouchier
  • Barbara Sjouke
  • Gina M Peloso
  • Alessa M Moscoso
  • Paul L Auer
  • Anuj Goel
  • Bruna Gigante
  • Timothy A Barnes
  • Stefano Duga
  • Suthesh Sivapalaratnam
  • Majid Nikpay
  • Nicola Martinelli
  • Domenico Girelli
  • Rebecca D Jackson
  • Charles Kooperberg
  • Leslie A Lange
  • Diego Ardissino
  • Ruth McPherson
  • Martin Farrall
  • Hugh Watkins
  • Muredach P Reilly
  • Daniel J Rader
  • Ulf de Faire
  • Heribert Schunkert
  • Jeanette Erdmann
  • Nilesh J Samani
  • Lawrence Charnas
  • David Altshuler
  • Stacey Gabriel
  • John J P Kastelein
  • Joep C Defesche
  • Aart J Nederveen
  • Sekar Kathiresan
  • G Kees Hovingh
Enheter & grupper
Forskningsområden

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Kardiologi
Originalspråkengelska
Sidor (från-till)2909-2914
TidskriftArteriosclerosis, Thrombosis and Vascular Biology
Volym33
Utgivningsnummer12
StatusPublished - 2013
PublikationskategoriForskning
Peer review utfördJa