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Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia |
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| Authors: | P. Benedek H. Jiao K. Duvefelt T. Skoog M. Linde P. Kiviluoma J. Kere M. Eriksson B. Angelin |
| Affiliation: | 1. Cardiometabolic Unit, Clinical Department of Endocrinology, Department of Medicine, Karolinska Institutet at Karolinska University Hospital, Huddinge, Sweden;2. Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden Clinical Research Center, Karolinska University Hospital, Huddinge, Sweden Contribution: Data curation (equal), Methodology (equal), Project administration (equal), Visualization (equal), Writing - original draft (supporting), Writing - review & editing (equal);3. Clinical Research Center, Karolinska University Hospital, Huddinge, Sweden Contribution: Data curation (equal), Methodology (equal), Project administration (equal), Writing - review & editing (equal);4. Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden Contribution: Data curation (supporting), Project administration (supporting), Validation (supporting), Writing - review & editing (supporting);5. Clinical Research Center, Karolinska University Hospital, Huddinge, Sweden Contribution: Data curation (supporting), Investigation (equal), Project administration (equal);6. Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden Clinical Research Center, Karolinska University Hospital, Huddinge, Sweden Folkhälsan Research Center, Helsinki, Finland Stem Cells and Metabolism Research Program, University of Helsinki, Helsinki, Finland Contribution: Conceptualization (equal), Methodology (supporting), Supervision (equal), Writing - review & editing (equal);7. Cardiometabolic Unit, Clinical Department of Endocrinology, Department of Medicine, Karolinska Institutet at Karolinska University Hospital, Huddinge, Sweden Clinical Research Center, Karolinska University Hospital, Huddinge, Sweden Contribution: Conceptualization (equal), Funding acquisition (supporting), Investigation (supporting), Methodology (supporting), Supervision (equal), Writing - original draft (supporting), Writing - review & editing (equal) |
| Abstract: | |
| Keywords: | Familial hypercholesterolaemia genotyping next-generation sequencing precision medicine APOB LDLR PCSK9 |