Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia

PURPOSE: Large-scale, population-based biobanks integrating health records and genomic profiles may provide a platform to identify individuals with disease-predisposing genetic variants. Here, we recall probands carrying familial hypercholesterolemia (FH)-associated variants, perform cascade screeni...

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Bibliografski detalji
Izdano u:Genet Med
Glavni autori: Alver, Maris, Palover, Marili, Saar, Aet, Läll, Kristi, Zekavat, Seyedeh Maryam, Tõnisson, Neeme, Leitsalu, Liis, Reigo, Anu, Nikopensius, Tiit, Ainla, Tiia, Kals, Mart, Mägi, Reedik, Gabriel, Stacey B., Eha, Jaan, Lander, Eric S., Irs, Alar, Philippakis, Anthony, Marandi, Toomas, Natarajan, Pradeep, Metspalu, Andres, Kathiresan, Sekar, Esko, Tõnu
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group US 2018
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6443485/
https://ncbi.nlm.nih.gov/pubmed/30270359
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-018-0311-2
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