ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9
ABCC9 相关智力障碍肌病综合征是一种 KATP 通道病，因 ABCC9 功能丧失而发生突变
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-019-12428-7
Marie F Smeland, Conor McClenaghan, Helen I Roessler, Sanne Savelberg, Geir Åsmund Myge Hansen, Helene Hjellnes, Kjell Arne Arntzen, Kai Ivar Müller, Andreas Rosenberger Dybesland, Theresa Harter, Monica Sala-Rabanal, Chris H Emfinger, Yan Huang, Soma S Singareddy, Jamie Gunn, David F Wozniak, Attil
