TY  - GEN
AU  - Mazzei,Rosalucia
AU  - Conforti,Francesca L
AU  - Magariello,Angela
AU  - Bravaccio,Carmela
AU  - Militerni,Roberto
AU  - Gabriele,Anna L
AU  - Sampaolo,Simone
AU  - Patitucci,Alessandra
AU  - Di Iorio,Giuseppe
AU  - Muglia,Maria
AU  - Quattrone,Aldo
TI  - A novel mutation in the CLN1 gene in a patient with juvenile neuronal ceroid lipofuscinosis
SN  - 0340-5354
PY  - 2003///0317
KW  - Amino Acid Substitution
KW  - genetics
KW  - Child
KW  - Cytoplasmic Granules
KW  - pathology
KW  - DNA Mutational Analysis
KW  - Female
KW  - Humans
KW  - Membrane Proteins
KW  - Mutation
KW  - Neuronal Ceroid-Lipofuscinoses
KW  - Polymerase Chain Reaction
KW  - Skin
KW  - Thiolester Hydrolases
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s00415-002-0849-3
ER  -