title: Novel human pathological mutations. Gene symbol: PPT1. Disease: neuronal ceroid lipofuscinosis, juvenile.
authors.affiliation: Pathology and Laboratory Medicine, All Children's Hospital, Saint Petersburg, FL 33701, USA. muellert@alkids.org
authors.forename: O Thomas
authors.initials: OT
authors.lastname: Mueller
authors.forename: A
authors.initials: A
authors.lastname: Coovadia
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D006720:Homozygote; D006801:Humans; D007438:Introns; D008565:Membrane Proteins / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology / Q000235:genetics*; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics; D013869:Thiolester Hydrolases
chemical_list: D008565:Membrane Proteins; D022821:RNA Splice Sites; D013869:Thiolester Hydrolases; C416054:PPT1 protein, human