Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
Muona, Mikko, Ishimura, Ryosuke, Laari, Anni, Ichimura, Yoshinobu, Linnankivi, Tarja, Keski-Filppula, Riikka, Herva, Riitta, Rantala, Heikki, Paetau, Anders, Pöyhönen, Minna, Obata, Miki, Uemura, TakeVolume:
99
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2016.06.020
Date:
September, 2016
File:
PDF, 1.55 MB
english, 2016