title: A novel CLN2/TPP1 mutation in a patient with late infantile neuronal ceroid lipofuscinosis.
authors.affiliation: Department of Neurology, The Affiliated Provincial Hospital of Anhui Medical University, No. 17, Lujiang Road, Hefei, 230022, China.
authors.forename: Feng
authors.initials: F
authors.lastname: Yu
authors.affiliation: Department of Neurology, The Affiliated Provincial Hospital of Anhui Medical University, No. 17, Lujiang Road, Hefei, 230022, China.
authors.forename: Xiao-Min
authors.initials: XM
authors.lastname: Liu
authors.affiliation: Department of Orthopedic Surgery, The Affiliated Fuyang Hospital of Anhui Medical University, No. 17, Lujiang Road, Hefei, 230022, China.
authors.forename: Yin-He
authors.initials: YH
authors.lastname: Chen
authors.affiliation: Department of Biochemistry and Molecular Biology, Anhui Medical University, No. 81, Meishan Road, Hefei, 230022, China.
authors.forename: Sheng-Quan
authors.initials: SQ
authors.lastname: Zhang
authors.affiliation: Department of Neurology, The First Affiliated Hospital of Anhui Medical University, No. 218, Jixi Road, Hefei, 230022, China. wangneur2007@163.com.
authors.forename: Kai
authors.initials: K
authors.lastname: Wang
mesh_terms: D000626:Aminopeptidases / Q000235:genetics*; D058256:Brain Waves / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D057057:Serine Proteases / Q000235:genetics*; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human
keywords: Ceroid lipofuscinosis neuronal 2; Late infantile neuronal ceroid lipofuscinoses (LINCL); Neuronal ceroid lipofuscinoses (NCL); Novel gene mutation; Tripeptidyl-peptidase 1