| Title : Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 - |
| Author(s) : Travaglini L , Aiello C , Alesi V , Loddo S , Novelli A , Tozzi G , Bertini E , Leuzzi V , Brancati F |
| Ref : Brain Dev , 39 :182 , 2017 |
| PubMedID: 27639779 |