RDF/XMLNTriplesTurtleShow queryShare
SubjectPredicateObject
http://purl.uniprot.org/citations/7870076http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/7870076http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/7870076http://www.w3.org/2000/01/rdf-schema#comment"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."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.org/dc/terms/identifier"doi:10.1006/mcpr.1994.1046"xsd:string
http://purl.uniprot.org/citations/7870076http://purl.org/dc/terms/identifier"doi:10.1006/mcpr.1994.1046"xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/author"Jones C.T."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/author"Jones C.T."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/author"Shaw P.J."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/author"Shaw P.J."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/author"Brock D.J."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/author"Brock D.J."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/author"Chari G."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/author"Chari G."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/date"1994"xsd:gYear
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/date"1994"xsd:gYear
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/name"Mol. Cell. Probes"xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/name"Mol. Cell. Probes"xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/pages"329-330"xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/pages"329-330"xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/title"Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/title"Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient."xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/volume"8"xsd:string
http://purl.uniprot.org/citations/7870076http://purl.uniprot.org/core/volume"8"xsd:string
http://purl.uniprot.org/citations/7870076http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/7870076
http://purl.uniprot.org/citations/7870076http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/7870076