Title : A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient - Santorelli_1998_Biochem.Biophys.Res.Commun_245_519 |
Author(s) : Santorelli FM , Bertini E , Petruzzella V , Di Capua M , Calvieri S , Gasparini P , Zeviani M |
Ref : Biochemical & Biophysical Research Communications , 245 :519 , 1998 |
Abstract : |
PubMedSearch : Santorelli_1998_Biochem.Biophys.Res.Commun_245_519 |
PubMedID: 9571187 |
Gene_locus related to this paper: human-PPT1 |