Novel G16S (GGC-AGC) mutation in the SOD-1 gene in a patient with apparently sporadic young-onset amyotrophic lateral sclerosis.
Kawamata
J
J
Department of Neurology, Faculty of Medicine, Kyoto University, Japan.
Shimohama
S
S
Takano
S
S
Harada
K
K
Ueda
K
K
Kimura
J
J
D000293:Adolescent; D017668:Age of Onset; D000690:Amyotrophic Lateral Sclerosis / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D005796:Genes / Q000235:genetics; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D013482:Superoxide Dismutase / Q000235:genetics*
D013482:Superoxide Dismutase