A novel mutation in the GFAP gene in a familial adult onset Alexander disease.
Salmaggi
Andrea
A
Botturi
Andrea
A
Lamperti
Elena
E
Grisoli
Marina
M
Fischetto
Rita
R
Ceccherini
Isabella
I
Caroli
Francesco
F
Boiardi
Amerigo
A
D000328:Adult; D038261:Alexander Disease / Q000175:diagnosis* / Q000235:genetics*; D001259:Ataxia / Q000209:etiology; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004569:Electroencephalography; D005260:Female; D005904:Glial Fibrillary Acidic Protein / Q000235:genetics*; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D035583:Rare Diseases; D012640:Seizures / Q000209:etiology
D005904:Glial Fibrillary Acidic Protein
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