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.
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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 version is 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 UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1371175 |
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