Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea
KCNK3基因的功能获得性突变会导致一种伴有睡眠呼吸暂停的发育障碍
期刊:Nature Genetics
影响因子:29
doi:10.1038/s41588-022-01185-x
Sörmann, Janina; Schewe, Marcus; Proks, Peter; Jouen-Tachoire, Thibault; Rao, Shanlin; Riel, Elena B; Agre, Katherine E; Begtrup, Amber; Dean, John; Descartes, Maria; Fischer, Jan; Gardham, Alice; Lahner, Carrie; Mark, Paul R; Muppidi, Srikanth; Pichurin, Pavel N; Porrmann, Joseph; Schallner, Jens; Smith, Kirstin; Straub, Volker; Vasudevan, Pradeep; Willaert, Rebecca; Carpenter, Elisabeth P; Rödström, Karin E J; Hahn, Michael G; Müller, Thomas; Baukrowitz, Thomas; Hurles, Matthew E; Wright, Caroline F; Tucker, Stephen J
