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http://purl.uniprot.org/citations/10430435http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10430435http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10430435http://www.w3.org/2000/01/rdf-schema#comment"We report a new missense mutation (Gly12Arg) [corrected] in exon 1 of the Cu/Zn superoxide dismutase (SOD1) gene in a 67-year-old patient with familial ALS (FALS). The clinical course showed an unusually slow progression. The enzymatic activity of the mutated SOD1 was 80% of normal. At the molecular level, the Gly12Arg [corrected] mutation occurs in a region outside the active site and may lead to local distortion strain in the protein structure."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.org/dc/terms/identifier"doi:10.1212/wnl.53.2.404"xsd:string
http://purl.uniprot.org/citations/10430435http://purl.org/dc/terms/identifier"doi:10.1212/wnl.53.2.404"xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Bolognesi M."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Bolognesi M."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Bugiani O."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Bugiani O."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Bordo D."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Bordo D."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Penco S."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Penco S."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Ajmar F."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Ajmar F."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Schenone A."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Schenone A."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Garre C."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Garre C."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Abbruzzese M."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/author"Abbruzzese M."xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/date"1999"xsd:gYear
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/date"1999"xsd:gYear
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/name"Neurology"xsd:string
http://purl.uniprot.org/citations/10430435http://purl.uniprot.org/core/name"Neurology"xsd:string