Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease
致病性 PDE12 变异会损害线粒体 RNA 处理，从而导致新生儿线粒体疾病
期刊:EMBO Molecular Medicine
影响因子:9
doi:10.1038/s44321-024-00172-5
Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petril
