Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
Marta Futema, Vincent Plagnol, KaWah Li, Ros A Whittall, H Andrew W Neil, Mary Seed, on behalf of the Simon Broome Consortium, Stefano Bertolini, Sebastiano Calandra, Olivier S Descamps, Colin A Graham, Robert A Hegele, Fredrik Karpe, Ronen Durst, Eran Leitersdorf, Nicholas Lench, Devaki R Nair, Handrean Soran, Frank M Van Bockxmeer, UK10K Consortium, Steve E Humphries
Journal of Medical Genetics Aug 2014, 51 (8) 537-544; DOI: 10.1136/jmedgenet-2014-102405