Molecular Screening of Familial Hypercholesterolemia in the Icelandic Population
Greg Kellogg, Bolli Þórsson, Ying Cai, Robert G. Wisotzkey, Andrew Pollock, Matthew Akana, Rebecca Fox, Michael Jansen, Elias Freyr Gudmundsson, Bonny Patel, Chih-Yu Chang, Malgorzata Jaremko, Valur Emilsson, Vilmundur G. Gudnason, Óscar Puig
The paper develops an NGS panel to identify pathogenic LDLR mutations in Icelandic FH families and population-based samples with high cholesterol.
bioRxiv · Sep 27, 2018 · PreprintGenetics