학술논문
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction
Document Type
Article
Author
Wang, J.; Duraine, L.; Zuo, Z.; Park, Y.-J.; Li-Kroeger, D.; Bellen, H.J.; Rousseau, J.; Ehresmann, S.; Campeau, P.M.; Kim, E.; Cheng, Y.-T.; Bi, W.; Wong, L.-J.; Rosenfeld, J.; Gleeson, J.; Faqeih, E.; Alkuraya, F.S.; Wierenga, K.J.; Chen, J.; Afenjar, A.; Nava, C.; Keren, B.; Doummar, D.; Juusola, J.; Grompe, M.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 5 December 2019, 105(6):1237-1253)
Subject
Language
English
ISSN
15376605
00029297
00029297