| http://purl.uniprot.org/citations/1347910 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1347910 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1347910 | http://www.w3.org/2000/01/rdf-schema#comment | "Fatal familial insomnia (FFI), a condition characterized by inability to sleep, dysautonomia, motor disturbances, and selective thalamic atrophy is a prion disease linked to a GAC----AAC mutation at codon 178 of the prion gene. These data were obtained from one kindred. We now report a second kindred affected by FFI and carrying the same mutation. The finding of the same disease phenotype and genotype in a second family further validates FFI as a distinct disease entity and a phenotype of the GAC----AAC mutation at codon 178 of the prion gene."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.org/dc/terms/identifier | "doi:10.1212/wnl.42.3.669"xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.org/dc/terms/identifier | "doi:10.1212/wnl.42.3.669"xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Montagna P."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Montagna P."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Tinuper P."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Tinuper P."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Cortelli P."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Cortelli P."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Gambetti P."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Gambetti P."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Leblanc A."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Leblanc A."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Lugaresi E."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Lugaresi E."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Medori R."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Medori R."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Tritschler H.J."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/author | "Tritschler H.J."xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/date | "1992"xsd:gYear |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/name | "Neurology"xsd:string |
| http://purl.uniprot.org/citations/1347910 | http://purl.uniprot.org/core/name | "Neurology"xsd:string |