Title : Novel human pathological mutations. Gene symbol: PPT1. Disease: neuronal ceroid lipofuscinosis, juvenile - |
Author(s) : Mueller OT , Coovadia A |
Ref : Hum Genet , 127 :490 , 2010 |
PubMedID: 21491624 |
Gene_locus related to this paper: human-PPT1 |
Mutation | IVS5+1G>A_human-PPT1 |
Gene_locus | human-PPT1 |
Disease | Infantile neuronal ceroid lipofuscinosis |
Mueller OT, Coovadia A (2010)
Novel human pathological mutations. Gene symbol: PPT1. Disease: neuronal ceroid lipofuscinosis, juvenile
Hum Genet
127 :490
Mueller OT, Coovadia A (2010)
Hum Genet
127 :490