KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy
KLHL40 缺乏会导致细丝蛋白不稳定并引发线状肌病
期刊:Journal of Clinical Investigation
影响因子:13.3
doi:10.1172/JCI74994
Ankit Garg, Jason O'Rourke, Chengzu Long, Jonathan Doering, Gianina Ravenscroft, Svetlana Bezprozvannaya, Benjamin R Nelson, Nadine Beetz, Lin Li, She Chen, Nigel G Laing, Robert W Grange, Rhonda Bassel-Duby, Eric N Olson