| http://purl.uniprot.org/citations/1944558 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1944558 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1944558 | http://www.w3.org/2000/01/rdf-schema#comment | "A mutation at codon 717 of the beta-amyloid precursor protein gene has been found to cosegregate with familial Alzheimer's disease in a single family. This mutation has been reported in a further five out of approximately 100 families multiply affected by Alzheimer's disease. We have identified another family, F19, in which we have detected linkage between the beta-amyloid precursor protein gene and Alzheimer's disease. Direct sequencing of exon 17 in affected individuals from this family has revealed a base change producing a Val----Gly substitution, also at codon 717. The occurrence of a second allelic variant at codon 717 linked to the Alzheimer's phenotype supports the hypothesis that they are pathogenic mutations."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.org/dc/terms/identifier | "doi:10.1038/353844a0"xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.org/dc/terms/identifier | "doi:10.1038/353844a0"xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Chartier-Harlin M.-C."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Chartier-Harlin M.-C."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Crawford F."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Crawford F."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Fidani L."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Fidani L."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Goate A."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Goate A."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Hardy J."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Houlden H."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Houlden H."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Hughes D."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Hughes D."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Mullan M."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Mullan M."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Roques P."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Roques P."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Rossor M."xsd:string |
| http://purl.uniprot.org/citations/1944558 | http://purl.uniprot.org/core/author | "Rossor M."xsd:string |