Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia-Reference-Cited by-同舟云学术

Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia

Published:2020-09-02 Issue:5 Volume:98 Page:457-467
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Rieck Lorenz¹^ORCID,Bardey Frieda¹,Grenkowitz Thomas²,Bertram Lars³⁴,Helmuth Johannes⁵,Mischung Claudia⁵,Spranger Joachim¹,Steinhagen‐Thiessen Elisabeth¹,Bobbert Thomas¹,Kassner Ursula¹,Demuth Ilja¹⁶

Affiliation:

1. Department of Endocrinology and Metabolism Charité – Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt‐Universität zu Berlin, and Berlin Institute of Health Berlin Germany

2. Department of Cardiology Charité ‐ University Medicine Berlin (Campus Benjamin Franklin) Berlin Germany

3. Lübeck Interdisciplinary Platform for Genome Analytics Institutes of Neurogenetics and Cardiogenetics, University of Lübeck Lübeck Germany

4. Center for Lifespan Changes in Brain and Cognition (LCBC), Dept of Psychology University of Oslo Oslo Norway

5. Department Molecular Diagnostics Labor Berlin – Charité Vivantes GmbH Berlin Germany

6. Charité ‐ Universitätsmedizin Berlin, BCRT ‐ Berlin Institute of Health Center for Regenerative Therapies Berlin Germany

Funder

Bundesministerium für Bildung und Forschung

Max-Planck-Gesellschaft

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13826

Reference52 articles.

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2. Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: Consensus Statement of the European Atherosclerosis Society

3. Clinical utility gene card for: Hyperlipoproteinemia, TYPE II

4. Proprotein Convertases Subtilisin/Kexin Type 9, an enzyme turned escort protein: Hepatic and extra hepatic functions (第9型前蛋白转换酶-枯草溶菌素/蛋白酶K，一种酶转变的护送蛋白：在肝脏与肝外的功能)

5. Mechanisms of Disease: genetic causes of familial hypercholesterolemia

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