Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease
与肌肉-眼-脑疾病相关的新型POMGNT1点突变和基因内重排
期刊:Journal of the Neurological Sciences
影响因子:3.2
doi:10.1016/j.jns.2012.04.008
Saredi, S; Ardissone, A; Ruggieri, A; Mottarelli, E; Farina, L; Rinaldi, R; Silvestri, E; Gandioli, C; D'Arrigo, S; Salerno, F; Morandi, L; Grammatico, P; Pantaleoni, C; Moroni, I; Mora, M