Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.

Mignon-Ravix, Cécile; Milh, Mathieu; Kaiser, Charlotte Sophia; Daniel, Jens; Riccardi, Florence; Cacciagli, Pierre; Nagara, Majdi; Busa, Tiffany; Liebau, Eva; Villard, Laurent.
Hum Mutat; 39(7): 934-938, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29663568