TY  - GEN
AU  - Aiello,Chiara
AU  - Terracciano,Alessandra
AU  - Simonati,Alessandro
AU  - Discepoli,Giancarlo
AU  - Cannelli,Natalia
AU  - Claps,Dianela
AU  - Crow,Yanick J
AU  - Bianchi,Marzia
AU  - Kitzmuller,Claudia
AU  - Longo,Daniela
AU  - Tavoni,Antonietta
AU  - Franzoni,Emilio
AU  - Tessa,Alessandra
AU  - Veneselli,Edwige
AU  - Boldrini,Renata
AU  - Filocamo,Mirella
AU  - Williams,Ruth E
AU  - Bertini,Enrico S
AU  - Biancheri,Roberta
AU  - Carrozzo,Rosalba
AU  - Mole,Sara E
AU  - Santorelli,Filippo M
TI  - Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis
SN  - 1098-1004
PY  - 2009///0528
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Child
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Female
KW  - Gene Frequency
KW  - Humans
KW  - Italy
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Membrane Transport Proteins
KW  - genetics
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Neuronal Ceroid-Lipofuscinoses
KW  - Pedigree
KW  - Sequence Homology, Amino Acid
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.20975
ER  -