Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
POLR3A 的次等位基因突变是散发性和隐性痉挛性共济失调的常见原因
期刊:Brain
影响因子:10.6
doi:10.1093/brain/awx095
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Syn