TY  - GEN
AU  - Dotti,Maria Teresa
AU  - Buccoliero,Rosaria
AU  - Lee,Andrew
AU  - Gorospe,J Raphael
AU  - Flint,Daniel
AU  - Galluzzi,Paolo
AU  - Bianchi,Silvia
AU  - D'Eramo,Camilla
AU  - Naidu,Sakkubai
AU  - Federico,Antonio
AU  - Brenner,Michael
TI  - An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant
SN  - 1432-1459
PY  - 2009///0820
KW  - Alexander Disease
KW  - genetics
KW  - Brain
KW  - pathology
KW  - Cell Line, Tumor
KW  - DNA Mutational Analysis
KW  - Female
KW  - Glial Fibrillary Acidic Protein
KW  - Humans
KW  - Infant
KW  - Magnetic Resonance Imaging
KW  - Mutation, Missense
KW  - Protein Multimerization
N1  - Publication Type: Case Reports; Letter; Research Support, N.I.H., Extramural
UR  - https://doi.org/10.1007/s00415-009-0147-4
ER  -