Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy
生物素-硫胺素反应性基底神经节脑病中的新型 SLC19A3 启动子缺失和等位基因沉默
期刊:PLoS One
影响因子:2.9
doi:10.1371/journal.pone.0149055
Irene Flønes, Paweł Sztromwasser, Kristoffer Haugarvoll, Christian Dölle, Maria Lykouri, Thomas Schwarzlmüller, Inge Jonassen, Hrvoje Miletic, Stefan Johansson, Per M Knappskog, Laurence A Bindoff, Charalampos Tzoulis