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.
Dotti
Maria Teresa
MT
Buccoliero
Rosaria
R
Lee
Andrew
A
Gorospe
J Raphael
JR
Flint
Daniel
D
Galluzzi
Paolo
P
Bianchi
Silvia
S
D'Eramo
Camilla
C
Naidu
Sakkubai
S
Federico
Antonio
A
Brenner
Michael
M
D038261:Alexander Disease / Q000235:genetics* / Q000473:pathology*; D001921:Brain / Q000473:pathology; D045744:Cell Line, Tumor; D004252:DNA Mutational Analysis; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D020125:Mutation, Missense; D055503:Protein Multimerization / Q000235:genetics
D005904:Glial Fibrillary Acidic Protein