Identification of a novel SOD1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of Ile113Thr in three others.
Jones
C T
CT
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
Swingler
R J
RJ
Brock
D J
DJ
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004277:DNA, Single-Stranded / Q000235:genetics; D005091:Exons; D005796:Genes; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D016622:Silver Staining; D013482:Superoxide Dismutase / Q000235:genetics*
D004277:DNA, Single-Stranded; D013482:Superoxide Dismutase