| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 5513902 | Molecular Genetics and Metabolism | 2017 | 8 Pages |
Abstract
The reported data support a pathogenic role of the c.347GÂ >Â A (p.Arg116Gln) mutation in PNPO deficiency. The later onset of symptoms and the milder epilepsy phenotype of these expand the disease phenotype.
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Authors
Martino L. di Salvo, Mario Mastrangelo, Isabel Nogués, Manuela Tolve, Alessandro Paiardini, Carla Carducci, Davide Mei, Martino Montomoli, Angela Tramonti, Renzo Guerrini, Roberto Contestabile, Vincenzo Leuzzi,