A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. [1]
| Titolo | A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation. |
| Publication Type | Journal Article |
| Authors | Barone, R [2], Carrozzi, M [3], Parini, R [4], Battini, R [5], Martinelli, D [6], Elia, M [7], Spada, M [8], Lilliu, F [9], Ciana, G [10], Burlina, A [11], Leuzzi, V [12], Leoni, M [13], Sturiale, L [14], Matthijs, G [15], Jaeken, J [16], Di Rocco, M [17], Garozzo, D [18], Fiumara, A [19] |
| PubMed ID | 25355454 [20] |