| http://purl.uniprot.org/citations/7647793 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7647793 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/7647793 | http://www.w3.org/2000/01/rdf-schema#comment | "Recent reports have shown heterozygosity for some twenty different mutations in the CuZn-superoxide dismutase (CuZn-SOD) gene in familial amyotrophic lateral sclerosis (FALS), and analysed samples from patients have shown decreased enzymic activity. Here we report homozygosity for an exon 4 mutation, Asp90Ala in fourteen patients among four unrelated ALS families and four apparently sporadic ALS patients from Sweden and Finland. The erythrocyte CuZn-SOD activity is essentially normal. Our findings suggest that this CuZn-SOD mutation causes ALS by a gain of function rather than by loss, and that the Asp90Ala mutation is less detrimental than previously reported mutations."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0595-61"xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng0595-61"xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Nilsson P."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Nilsson P."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Nilsson L."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Nilsson L."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Haltia T."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Haltia T."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Andersen P.M."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Andersen P.M."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Forsgren L."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Forsgren L."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Ala-Hurula V."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Ala-Hurula V."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Binzer M."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Binzer M."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Keraenen M.-L."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Keraenen M.-L."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Marklund S.L."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Marklund S.L."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Tarvainen I."xsd:string |
| http://purl.uniprot.org/citations/7647793 | http://purl.uniprot.org/core/author | "Tarvainen I."xsd:string |