ETHE1 mutations are specific to ethylmalonic encephalopathy
ETHE1 基因突变是乙基丙二酸脑病的特异性特征。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg.2005.036210
Tiranti, V; Briem, E; Lamantea, E; Mineri, R; Papaleo, E; De Gioia, L; Forlani, F; Rinaldo, P; Dickson, P; Abu-Libdeh, B; Cindro-Heberle, L; Owaidha, M; Jack, R M; Christensen, E; Burlina, A; Zeviani, M
