TY  - GEN
AU  - Wang,Yu-Liang
AU  - Zeng,Zhi-Yong
AU  - Song,Xing-Wang
AU  - Hao,Zhuo-Fang
AU  - Shi,Yi-Wu
AU  - Tang,Bin
AU  - Chen,Sheng-Qiang
AU  - Gao,Mei-Mei
AU  - Di,Wei
AU  - Long,Yue-Sheng
AU  - Yi,Yong-Hong
AU  - Liao,Wei-Ping
TI  - A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis
SN  - 1364-6753
PY  - 2011///0506
KW  - Aminopeptidases
KW  - genetics
KW  - Asian People
KW  - Base Sequence
KW  - Child
KW  - China
KW  - DNA
KW  - Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
KW  - Female
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Neuronal Ceroid-Lipofuscinoses
KW  - enzymology
KW  - Pedigree
KW  - RNA Splice Sites
KW  - Serine Proteases
KW  - Tripeptidyl-Peptidase 1
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10048-010-0258-1
ER  -