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 : 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 : |
PubMedSearch : Farhan_2014_Can.J.Cardiol_30_1649 |
PubMedID: 25475467 |
Gene_locus related to this paper: human-LIPE |