title: A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.
authors.forename: Yu-Liang
authors.initials: YL
authors.lastname: Wang
authors.forename: Zhi-Yong
authors.initials: ZY
authors.lastname: Zeng
authors.forename: Xing-Wang
authors.initials: XW
authors.lastname: Song
authors.forename: Zhuo-Fang
authors.initials: ZF
authors.lastname: Hao
authors.forename: Yi-Wu
authors.initials: YW
authors.lastname: Shi
authors.forename: Bin
authors.initials: B
authors.lastname: Tang
authors.forename: Sheng-Qiang
authors.initials: SQ
authors.lastname: Chen
authors.forename: Mei-Mei
authors.initials: MM
authors.lastname: Gao
authors.forename: Wei
authors.initials: W
authors.lastname: Di
authors.forename: Yue-Sheng
authors.initials: YS
authors.lastname: Long
authors.forename: Yong-Hong
authors.initials: YH
authors.lastname: Yi
authors.forename: Wei-Ping
authors.initials: WP
authors.lastname: Liao
mesh_terms: D000626:Aminopeptidases / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002681:China; D004247:DNA / Q000235:genetics; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D022821:RNA Splice Sites; D057057:Serine Proteases / Q000235:genetics*; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D022821:RNA Splice Sites; D000091346:Tripeptidyl-Peptidase 1; D004247:DNA; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human
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