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Title : Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis - Sleat_2016_Gene_593_284 |
Author(s) : Sleat DE , Gedvilaite E , Zhang Y , Lobel P , Xing J |
Ref : Gene , 593 :284 , 2016 |
Abstract : Sleat_2016_Gene_593_284 |
ESTHER : Sleat_2016_Gene_593_284 |
PubMedSearch : Sleat_2016_Gene_593_284 |
PubMedID: 27553520 |
Gene_locus related to this paper: human-PPT1 |
Title : Residual levels of tripeptidyl-peptidase I activity dramatically ameliorate disease in late-infantile neuronal ceroid lipofuscinosis - Sleat_2008_Mol.Genet.Metab_94_222 |
Author(s) : Sleat DE , El-Banna M , Sohar I , Kim KH , Dobrenis K , Walkley SU , Lobel P |
Ref : Mol Genet Metab , 94 :222 , 2008 |
Abstract : Sleat_2008_Mol.Genet.Metab_94_222 |
ESTHER : Sleat_2008_Mol.Genet.Metab_94_222 |
PubMedSearch : Sleat_2008_Mol.Genet.Metab_94_222 |
PubMedID: 18343701 |