A novel CLN2/TPP1 mutation in a Chinese patient with late infantile neuronal ceroid lipofuscinosis.
Wang
Yu-Liang
YL
Zeng
Zhi-Yong
ZY
Song
Xing-Wang
XW
Hao
Zhuo-Fang
ZF
Shi
Yi-Wu
YW
Tang
Bin
B
Chen
Sheng-Qiang
SQ
Gao
Mei-Mei
MM
Di
Wei
W
Long
Yue-Sheng
YS
Yi
Yong-Hong
YH
Liao
Wei-Ping
WP
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
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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