Heterozygous D90A-SOD1 mutation in an Italian ALS patient with atypical presentation.
Origone
Paola
P
Caponnetto
Claudia
C
Mascolo
Maria
M
Mandich
Paola
P
D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics / Q000503:physiopathology; D006579:Heterozygote; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013482:Superoxide Dismutase / Q000235:genetics*; D000072105:Superoxide Dismutase-1
C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1