Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
氧化抗性 1（OXR1）的缺失与一种常染色体隐性神经系统疾病有关，该疾病伴有小脑萎缩和溶酶体功能障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.11.002
Julia Wang, Justine Rousseau, Emily Kim, Sophie Ehresmann, Yi-Ting Cheng, Lita Duraine, Zhongyuan Zuo, Ye-Jin Park, David Li-Kroeger, Weimin Bi, Lee-Jun Wong, Jill Rosenfeld, Joseph Gleeson, Eissa Faqeih, Fowzan S Alkuraya, Klaas J Wierenga, Jiani Chen, Alexandra Afenjar, Caroline Nava, Diane Doumma
