UCL logo

UCL Discovery

UCL home » Library Services » Electronic resources » UCL Discovery

Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia

Futema, M; Plagnol, V; Whittall, RA; Neil, HA; Simon Broome Register Group,; Humphries, SE; UK10K,; (2012) Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia. Journal of Medical Genetics , 49 (10) 644 -649. 10.1136/jmedgenet-2012-101189. Green and gold open access

[img]
Preview
PDF - Requires a PDF viewer such as GSview, Xpdf or Adobe Acrobat Reader
253Kb

Abstract

Familial Hypercholesterolaemia (FH) is an autosomal dominant disease, caused by mutations in LDLR, APOB or PCSK9, which results in high levels of LDL-cholesterol (LDL-C) leading to early coronary heart disease. An autosomal recessive form of FH is also known, due to homozygous mutations in LDLRAP1. This study assessed the utility of an exome capture method and deep sequencing in FH diagnosis.

Type:Article
Title:Use of targeted exome sequencing as a diagnostic tool for familial hypercholesterolaemia
Location:England
Open access status:An open access publication. A version is also available from UCL Discovery.
DOI:10.1136/jmedgenet-2012-101189
Publisher version:http://dx.doi.org/10.1136/jmedgenet-2012-101189
Language:English
Additional information:This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: http://creativecommons.org/licenses/by-nc/3.0/ and http://creativecommons.org/licenses/by-nc/3.0/legalcode PMCID: PMC3475071
Keywords:Adaptor proteins, Signal transducing, Apolipoproteins B, Computational biology, DNA copy number variations, Exome, High-throughput nucleotide sequencing, Humans, Hyperlipoproteinemia type II, Mutation, Proprotein convertases, Receptors, LDL, Serine endopeptidases
UCL classification:UCL > School of Life and Medical Sciences > Faculty of Life Sciences > Biosciences (Division of) > Genetics, Evolution and Environment > UCL Genetics Institute
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science

View download statistics for this item

Archive Staff Only: edit this record