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| 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 |
| Title : Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin - |
| Author(s) : Carboni N , Brancati F , Cocco E , Solla E , D'Apice MR , Mateddu A , McIntyre A , Fadda E , Mura M , Lattanzi G , Piras R , Maioli MA , Marrosu G , Novelli G , Marrosu MG , Hegele RA |
| Ref : Muscle & Nerve , 49 :928 , 2014 |
| PubMedID: 24375490 |
| Gene_locus related to this paper: human-LIPE |
| Title : A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy - Farhan_2014_Can.J.Cardiol_30_1649 |
| Author(s) : Farhan SM , Robinson JF , McIntyre AD , Marrosu MG , Ticca AF , Loddo S , Carboni N , Brancati F , Hegele RA |
| Ref : Can J Cardiol , 30 :1649 , 2014 |
| Abstract : Farhan_2014_Can.J.Cardiol_30_1649 |
| ESTHER : Farhan_2014_Can.J.Cardiol_30_1649 |
| PubMedSearch : Farhan_2014_Can.J.Cardiol_30_1649 |
| PubMedID: 25475467 |
| Gene_locus related to this paper: human-LIPE |