Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis
ELOVL1双等位基因变异与髓鞘形成不足性脑白质营养不良、运动障碍和鱼鳞病相关。
期刊:Movement Disorders
影响因子:7.6
doi:10.1002/mds.30258
Wong, Keit Men; Maroofian, Reza; Meier, Kolja; Diegmann, Susann; Tkemaladze, Tinatin; Alvi, Javeria Raza; Tasharrofi, Behnoosh; Efthymiou, Stephanie; Munchau, Alexander; Korenke, G Christoph; Almontashiri, Naif; Eyaid, Wafaa; Kashgari, Amna; Alotaibi, Modhi; Gärtner, Jutta; Huppke, Brenda; Asadollahi, Mostafa; Chikvinidze, Gocha; Keramatipour, Mohammad; Sultan, Tipu; Thiele, Holger; Nürnberg, Peter; Gräler, Markus H; Houlden, Henry; Huppke, Peter