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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Genet Med
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group US 2018
Предметы:
Article
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы