TY  - GEN
AU  - Kwon,Jennifer M
AU  - Rothberg,Paul G
AU  - Leman,Adam R
AU  - Weimer,Jill M
AU  - Mink,Jonathan W
AU  - Pearce,David A
TI  - Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype
SN  - 0304-3940
PY  - 2005///1021
KW  - Adult
KW  - Brain
KW  - metabolism
KW  - Codon, Nonsense
KW  - genetics
KW  - DNA Mutational Analysis
KW  - Disease Progression
KW  - Exons
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Membrane Glycoproteins
KW  - Molecular Chaperones
KW  - Mutation
KW  - Neuronal Ceroid-Lipofuscinoses
KW  - Phenotype
KW  - Point Mutation
KW  - Protein Structure, Tertiary
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.neulet.2005.07.023
ER  -