| http://purl.uniprot.org/citations/8458085 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8458085 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/8458085 | http://www.w3.org/2000/01/rdf-schema#comment | "The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect. A new gene, IT15, isolated using cloned trapped exons from the target area contains a polymorphic trinucleotide repeat that is expanded and unstable on HD chromosomes. A (CAG)n repeat longer than the normal range was observed on HD chromosomes from all 75 disease families examined, comprising a variety of ethnic backgrounds and 4p16.3 haplotypes. The (CAG)n repeat appears to be located within the coding sequence of a predicted approximately 348 kd protein that is widely expressed but unrelated to any known gene. Thus, the HD mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.org/dc/terms/identifier | "doi:10.1016/0092-8674(93)90585-e"xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.org/dc/terms/identifier | "doi:10.1016/0092-8674(93)90585-e"xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Altherr M."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Altherr M."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Anderson M.A."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Anderson M.A."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Barnes G."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Barnes G."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Collins F.S."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Collins F.S."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Doucette-Stamm L."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Doucette-Stamm L."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Lehrach H."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Lehrach H."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Poustka A."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Poustka A."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Shah M."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Shah M."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Macdonald M."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Macdonald M."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Valdes J."xsd:string |
| http://purl.uniprot.org/citations/8458085 | http://purl.uniprot.org/core/author | "Valdes J."xsd:string |