| http://purl.uniprot.org/citations/9792871 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9792871 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9792871 | http://www.w3.org/2000/01/rdf-schema#comment | "Huntington disease (HD) is an autosomal dominant neurodegenerative disorder characterized by motor disturbance, cognitive loss, and psychiatric manifestations. The disease is associated with a CAG trinucleotide-repeat expansion in the Huntington gene (IT15) on chromosome 4p16.3. One family with a history of HD was referred to us initially for predictive testing using linkage analysis. However, the chromosome 4p region was completely excluded by polymorphic markers, and later no CAG-repeat expansion in the HD gene was detected. To map the disease trait segregating in this family, whole-genome screening with highly polymorphic dinucleotide-, trinucleotide-, and tetranucleotide-repeat DNA markers was performed. A positive LOD score of 3.01 was obtained for the marker D20S482 on chromosome 20p, by two-point LOD-score analysis with the MLINK program. Haplotype analysis indicated that the gene responsible for the disease is likely located in a 2.7-cM region between the markers D20S193 and D20S895. Candidate genes from the mapping region were screened for mutations."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.org/dc/terms/identifier | "doi:10.1086/302093"xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.org/dc/terms/identifier | "doi:10.1086/302093"xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Zhang Z."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Zhang Z."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Hayden M.R."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Hayden M.R."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Lundin A."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Lundin A."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Xiang F."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Xiang F."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Anvret M."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Anvret M."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Huq M."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Huq M."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Edstroem L."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Edstroem L."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Almqvist E.W."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/author | "Almqvist E.W."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |
| http://purl.uniprot.org/citations/9792871 | http://purl.uniprot.org/core/name | "Am. J. Hum. Genet."xsd:string |