Equal contribution as senior and corresponding authors.
Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing
Version of Record online: 20 MAY 2014
© 2014 The Authors. Journal of Internal Medicine published by John Wiley & Sons Ltd on behalf of The Association for the Publication of the Journal of Internal Medicine.
This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
Journal of Internal Medicine
Volume 276, Issue 4, pages 396–403, October 2014
How to Cite
Genetic diagnosis of familial hypercholesterolaemia by targeted next-generation sequencing. J Intern Med 2014; 276: 396–403., , , , , , , , , (University of Gothenburg, Gothenburg, Sweden; University Magna Graecia of Catanzaro, Italy; University of Milan, Italy; Progenika Biopharma SA, Derio, Spain).
- Issue online: 20 SEP 2014
- Version of Record online: 20 MAY 2014
- Accepted manuscript online: 1 MAY 2014 09:56PM EST
- Swedish Research Council
- Swedish Diabetes Foundation
- Swedish Heart-Lung Foundation
- Region Västra Götaland
- Sahlgrenska University Hospital
- Wilhelm and Martina Lundgren Science Fund
- Fysiografiska Sällskapet
- European Commission
- European Social Fund
- Calabria Region
Data S1. Methods.
Table S1. Clinical and biochemical characteristics of the study cohort stratified by the FH-related mutations.
Table S2. Mutations identified in the LDLR, APOB or PCSK9 genes.
Table S3. In silico prediction of effect for the nonsynonymous mutations with unknown pathogenicity.
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