| Title : Cln3-mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl-protein thioesterases-1 (Ppt1)-protein and Ppt1-enzyme activity in the lysosome - Appu_2019_J.Inherit.Metab.Dis_42_944 |
| Author(s) : Appu AP , Bagh MB , Sadhukhan T , Mondal A , Casey S , Mukherjee AB |
| Ref : J Inherit Metab Dis , 42 :944 , 2019 |
| Abstract : |
| PubMedSearch : Appu_2019_J.Inherit.Metab.Dis_42_944 |
| PubMedID: 31025705 |
| Gene_locus related to this paper: human-PPT1 |