Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis.
Hayward
C
C
Brock
D J
DJ
Minns
R A
RA
Swingler
R J
RJ
D000293:Adolescent; D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation; D013482:Superoxide Dismutase / Q000235:genetics*
D013482:Superoxide Dismutase