Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
对LDLR/APOB/PCSK9突变阴性的家族性高胆固醇血症患者进行全外显子组测序
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2014-102405
Futema, Marta; Plagnol, Vincent; Li, KaWah; Whittall, Ros A; Neil, H Andrew W; Seed, Mary; Bertolini, Stefano; Calandra, Sebastiano; Descamps, Olivier S; Graham, Colin A; Hegele, Robert A; Karpe, Fredrik; Durst, Ronen; Leitersdorf, Eran; Lench, Nicholas; Nair, Devaki R; Soran, Handrean; Van Bockxmeer, Frank M; Humphries, Steve E