| http://purl.uniprot.org/citations/1683708 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1683708 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/1683708 | http://www.w3.org/2000/01/rdf-schema#comment | "The PRNP gene, encoding the amyloid precursor protein that is centrally involved in Creutzfeldt-Jakob disease (CJD), has an unstable region of five variant tandem octapeptide coding repeats between codons 51 and 91. We screened a total of 535 individuals for the presence of extra repeats in this region, including patients with sporadic and familial forms of spongiform encephalopathy, members of their families, other neurological and non-neurological patients, and normal controls. We identified three CJD families (in each of which the proband's disease was neuropathologically confirmed and experimentally transmitted to primates) that were heterozygous for alleles with 10, 12, or 13 repeats, some of which had "wobble" nucleotide substitutions. We also found one individual with 9 repeats and no nucleotide substitutions who had no evidence of neurological disease. These observations, together with data on published British patients with 11 and 14 repeats, strongly suggest that the occurrence of 10 or more octapeptide repeats in the encoded amyloid precursor protein predisposes to CJD."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.88.23.10926"xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.88.23.10926"xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "McCombie W.R."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "McCombie W.R."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Gajdusek D.C."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Gajdusek D.C."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Goldgaber D."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Goldgaber D."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Brown P."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Brown P."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Cervenakova L."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Cervenakova L."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Goldfarb L.G."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Goldfarb L.G."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Swergold G.D."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Swergold G.D."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Baron H."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Baron H."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Gibbs C.J. Jr."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Gibbs C.J. Jr."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Wills P.R."xsd:string |
| http://purl.uniprot.org/citations/1683708 | http://purl.uniprot.org/core/author | "Wills P.R."xsd:string |