Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis.
Bodzioch
M
M
Department of Child Neurology, Polish-American Children's Hospital, Collegium Medicum, Jagiellonian University, Wielicka 265, 30-663 Krakow, Poland.
Aslanidis
C
C
Kacinski
M
M
Zhong
N
N
Wisniewski
K E
KE
Schmitz
G
G
D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D010450:Endopeptidases; D005260:Female; D005453:Fluorescence; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D010447:Peptide Hydrolases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D057057:Serine Proteases; D000091346:Tripeptidyl-Peptidase 1
D005819:Genetic Markers; D000091346:Tripeptidyl-Peptidase 1; D010450:Endopeptidases; D010447:Peptide Hydrolases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human