title: Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient.
abstract: We have been screening a cohort of 46 sporadic and 10 familial amyotrophic lateral sclerosis patients for mutations in the superoxide dismutase gene (SOD1) using a combination of SSCP and direct PCR sequencing. A novel missense mutation (Asp101Asn) has been detected in one sporadic patient and a previously reported mutation has been found in two familial cases.
authors.affiliation: Human Genetics Unit, University of Edinburgh, Western General Hospital.
authors.forename: C T
authors.initials: CT
authors.lastname: Jones
authors.forename: P J
authors.initials: PJ
authors.lastname: Shaw
authors.forename: G
authors.initials: G
authors.lastname: Chari
authors.forename: D J
authors.initials: DJ
authors.lastname: Brock
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics*; D001208:Asia / Q000208:ethnology; D015331:Cohort Studies; D005091:Exons; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012606:Scotland / Q000453:epidemiology; D013482:Superoxide Dismutase / Q000235:genetics*
chemical_list: D013482:Superoxide Dismutase