Pubblicazioni

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

2017 - BRAIN & DEVELOPMENT

Travaglini, Lorena; Aiello, Chiara; Alesi, Viola; Loddo, Sara; Novelli, Antonio; Tozzi, Giulia; Bertini, Enrico; Leuzzi, Vincenzo; Brancati, Francesco