{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T05:46:04Z","timestamp":1791351964682,"version":"4.3.1"},"reference-count":40,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"5083","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Science"],"published-print":{"date-parts":[[1992,10,30]]},"abstract":"<jats:p>\n            Fatal familial insomnia (FFI) and a subtype of familial Creutzfeldt-Jakob disease (CJD), two clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn\n            <jats:sup>178<\/jats:sup>\n            ) of the prion protein gene. The possibility that a second genetic component modified the phenotypic expression of the Asn\n            <jats:sup>178<\/jats:sup>\n            mutation was investigated. FFI and the familial CJD subtype segregated with different genotypes determined by the Asn\n            <jats:sup>178<\/jats:sup>\n            mutation and the methionine-valine polymorphism at codon 129. The Met\n            <jats:sup>129<\/jats:sup>\n            , Asn\n            <jats:sup>178<\/jats:sup>\n            allele segregated with FFI in all 15 affected members of five kindreds whereas the Val\n            <jats:sup>129<\/jats:sup>\n            , Asn\n            <jats:sup>178<\/jats:sup>\n            allele segregated with the familial CJD subtype in all 15 affected members of six kindreds. Thus, two distinct disease phenotypes linked to a single pathogenic mutation can be determined by a common polymorphism.\n          <\/jats:p>","DOI":"10.1126\/science.1439789","type":"journal-article","created":{"date-parts":[[2006,10,5]],"date-time":"2006-10-05T23:03:06Z","timestamp":1160089386000},"page":"806-808","source":"Crossref","is-referenced-by-count":558,"title":["Fatal Familial Insomnia and Familial Creutzfeldt-Jakob Disease: Disease Phenotype Determined by a DNA Polymorphism"],"prefix":"10.1126","volume":"258","author":[{"given":"Lev G.","family":"Goldfarb","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert B.","family":"Petersen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Tabaton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Brown","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andr\u00e9a C.","family":"LeBlanc","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pasquale","family":"Montagna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Cortelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean","family":"Julien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claude","family":"Vital","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William W.","family":"Pendelbury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matii","family":"Haltia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter R.","family":"Wills","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean J.","family":"Hauw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul E.","family":"McKeever","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Monari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertold","family":"Schrank","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary D.","family":"Swergold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucila","family":"Autilio-Gambetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D. 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