Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

Autor: Anho H Liem, Albert Hofman, Adriana C. Blommesteijn-Touw, Iris Kindt, Jeanette Erdman, Mojgan Yazdanpanah, Fátima Almagro, Frans van der Ouderaa, Ranitha Vongpromek, Fernando Civeira, Jose M. Ordovas, Peter W. de Leeuw, Keith J. Johnson, Hrobjartur D. Karlsson, Monique T. Mulder, Daniëlla M. Oosterveer, Tony Dadd, Martin R. Green, Joep C. Defesche, Roeland Huijgen, Abbas Dehghan, Maarten L. Simoons, Hilma Holm, Leonie C. van Vark-van der Zee, Leiv Ose, Aeilko H. Zwinderman, Cornelia M. van Duijn, Gisle Langslet, Luis Masana, Maurizio Averna, Gudmar Thorleifsson, Jorie Versmissen, A F L Schinkel, Jaap Kwekkeboom, Yurii S. Aulchenko, Jacqueline C. M. Witteman, John J.P. Kastelein, Heribert Schunkert, Steve E. Humphries, Arne S. Schaefer, Stefano Bertolini, Emilio Ros, Xavier Pintó, Andrew Neil, André G. Uitterlinden, Eric J.G. Sijbrands, Amelia Jarman, Sebastiano Calandra

Publikováno v: European journal of human genetics, 23(3), 381-387. Nature Publishing Group
European Journal of Human Genetics, 23(3), 381-387. Nature Publishing Group
European Journal of Human Genetics, 23(3), 381-387

Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a disorder characterized by coronary heart disease (CHD) at young age. We aimed to apply an extreme sampling method to enhance the statistical pow

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06b4bf108a24c38e57156f1d8016f15a
https://doi.org/10.1038/ejhg.2014.101