{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T17:08:05Z","timestamp":1773248885113,"version":"3.50.1"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2004,5,18]],"date-time":"2004-05-18T00:00:00Z","timestamp":1084838400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2004,6]]},"DOI":"10.1007\/s10038-004-0150-7","type":"journal-article","created":{"date-parts":[[2004,5,17]],"date-time":"2004-05-17T07:18:13Z","timestamp":1084778293000},"page":"319-324","source":"Crossref","is-referenced-by-count":62,"title":["Polymorphisms of the prion protein gene (PRNP) in a Korean population"],"prefix":"10.1038","volume":"49","author":[{"given":"Byung-Hoon","family":"Jeong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jae-Hwan","family":"Nam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun-Jung","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyung-Hee","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Myoung-Kuk","family":"Jang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard I.","family":"Carp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ho-Dong","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young-Ran","family":"Ju","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sangmee","family":"Ahn Jo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Keun-Yong","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong-Sun","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2004,5,18]]},"reference":[{"key":"150_CR1","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1212\/WNL.49.1.133","volume":"49","author":"Capellari","year":"1997","unstructured":"Capellari S, Vital C, Parchi P, Petersen RB, Ferrer X, Jarnier D, Pegoraro E, Gambetti P, Julien J (1997) Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family. Neurology 49:133\u2013141","journal-title":"Neurology"},{"key":"150_CR2","doi-asserted-by":"publisher","first-page":"1411","DOI":"10.1016\/0140-6736(91)93128-V","volume":"337","author":"Collinge","year":"1991","unstructured":"Collinge J, Palmer MS, Dryden AJ (1991) Genetic predisposition to iatrogenic Creutzfeldt\u2013Jakob disease. Lancet 337:1411\u20131442","journal-title":"Lancet"},{"key":"150_CR3","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1038\/383685a0","volume":"383","author":"Collinge","year":"1996","unstructured":"Collinge J, Sidle KC, Meads J, Ironside J, Hill AF (1996) Molecular analysis of prion strain variation and the aetiology of \u201cnew variant\u201d CJD. Nature 383:685\u2013690","journal-title":"Nature"},{"key":"150_CR4","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1099\/0022-1317-75-1-23","volume":"75","author":"Desly","year":"1994","unstructured":"Desly JP, Marce D, Dormont D (1994) Similar genetic susceptibility in iatrogenic and sporadic Creutzfeldt\u2013Jakob disease. J Gen Virol 75:23\u201327","journal-title":"J Gen Virol"},{"key":"150_CR5","doi-asserted-by":"crossref","first-page":"974","DOI":"10.1016\/0006-291X(89)92317-6","volume":"163","author":"Doh-ura","year":"1989","unstructured":"Doh-ura K, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y (1989) Pro\u2192leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann\u2013Str\u00e4ussler syndrome. Biochem Biophys Res Commun 163:974\u2013979","journal-title":"Biochem Biophys Res Commun"},{"key":"150_CR6","doi-asserted-by":"publisher","first-page":"801","DOI":"10.1038\/353801b0","volume":"353","author":"Doh-ura","year":"1991","unstructured":"Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J (1991) CJD discrepancy. Nature 353:801\u2013802","journal-title":"Nature"},{"key":"150_CR7","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1038\/sj.ejhg.5200754","volume":"9","author":"Erginel-Unaltuna","year":"2001","unstructured":"Erginel-Unaltuna N, Peoc\u2019h K, Komurcu E, Acuner TT, Lssever H, Laplanche JL (2001) Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt\u2013Jakob disease. Eur J Hum Genet 9:965\u2013968","journal-title":"Eur J Hum Genet"},{"key":"150_CR8","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1002\/humu.1380040106","volume":"4","author":"Fink","year":"1994","unstructured":"Fink JK, Peacock ML, Warren JT Jr, Roses AD, Prusiner SB (1994) Detecting prion protein gene mutations by denaturing gradient gel electrophoresis. Hum Mutat 4:42\u201350","journal-title":"Hum Mutat"},{"key":"150_CR9","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1016\/0169-328X(95)00034-P","volume":"30","author":"Furukawa","year":"1995","unstructured":"Furukawa H, Kitamoto T, Tanaka Y, Tateishi J (1995) New variant prion protein in a Japanese family with Gerstmann\u2013Str\u00e4ussler syndrome. Brain Res Mol Brain Res 30:385\u2013388","journal-title":"Brain Res Mol Brain Res"},{"key":"150_CR10","doi-asserted-by":"crossref","first-page":"10926","DOI":"10.1073\/pnas.88.23.10926","volume":"88","author":"Goldfarb","year":"1991","unstructured":"Goldfarb LG, Brown P, McCombie WR, Goldgaber D, Swergold GD, Wills PR, Cervenakova L, Baron H, Gibbs CJ Jr, Gajdusek DC (1991) Transmissible familial Creutzfeldt\u2013Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene. Proc Natl Acad Sci USA 88:10926\u201310930","journal-title":"Proc Natl Acad Sci USA"},{"key":"150_CR11","doi-asserted-by":"crossref","first-page":"342","DOI":"10.1038\/338342a0","volume":"338","author":"Hsiao","year":"1989","unstructured":"Hsiao K, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Westaway D, Ott J, Prusiner SB (1989) Linkage of a prion protein missense variant to Gerstmann\u2013Str\u00e4ussler syndrome. Nature 338:342\u2013345","journal-title":"Nature"},{"key":"150_CR12","doi-asserted-by":"publisher","first-page":"10069","DOI":"10.1073\/pnas.94.19.10069","volume":"94","author":"Kaneko","year":"1997","unstructured":"Kaneko K, Zulianello L, Scott M, Cooper CM, Wallace AC, James TL, Cohen FE, Prusiner SB (1997) Evidence for protein X binding to a discontinuous epitope on the cellular prion protein during scrapie prion propagation. Proc Natl Acad Sci USA 94:10069\u201310074","journal-title":"Proc Natl Acad Sci USA"},{"key":"150_CR13","doi-asserted-by":"crossref","first-page":"6745","DOI":"10.1093\/nar\/18.22.6745","volume":"18","author":"Laplanche","year":"1990","unstructured":"Laplanche JL, Chatelain J, Launay JM, Gazengel C, Vidaud M (1990) Deletion in prion protein gene in a Moroccan family. Nucleic Acids Res 18:6745","journal-title":"Nucleic Acids Res"},{"key":"150_CR14","doi-asserted-by":"crossref","first-page":"2347","DOI":"10.1212\/WNL.44.12.2347","volume":"44","author":"Laplanche","year":"1994","unstructured":"Laplanche JL, Delasnerie-Laupretre N, Brandel JP, Brandel JP, Chatelain J, Beaudry P, Alperovitch A, Launay JM (1994) Molecular genetics of prion diseases in France. French research group on epidemiology of human spongiform encephalopathies. Neurology 44:2347\u20132351","journal-title":"Neurology"},{"key":"150_CR15","doi-asserted-by":"publisher","first-page":"553","DOI":"10.1002\/ana.10748","volume":"54","author":"Ohkubo","year":"2003","unstructured":"Ohkubo T, Sakasegawa Y, Asada T, Kinoshita T, Goto Y, Kimura H, Mizusawa H, Hachiya NS, Kaneko K (2003) Absence of association between codon 129\/219 polymorphisms of the prion protein gene and Alzheimer\u2019s disease in Japan. Ann Neurol 54:553\u2013554","journal-title":"Ann Neurol"},{"key":"150_CR16","first-page":"1215","volume":"46","author":"Owen","year":"1990","unstructured":"Owen F, Poulter M, Collinge J, Crow TJ (1990) Codon 129 changes in the prion protein gene in Caucasians. Am J Hum Genet 46:1215\u20131216","journal-title":"Am J Hum Genet"},{"key":"150_CR17","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1038\/352340a0","volume":"352","author":"Palmer","year":"1991","unstructured":"Palmer MS, Dryden AJ, Hughes JT, Collinge J (1991) Homozygous prion protein genotype predisposes to sporadic Creutzfeldt\u2013Jakob disease. Nature 352:340\u2013342","journal-title":"Nature"},{"key":"150_CR18","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1093\/hmg\/2.5.541","volume":"2","author":"Palmer","year":"1993","unstructured":"Palmer MS, Mahal SP, Campbell TA, Hill AF, Sidle KC, Laplanche JL, Collinge J (1993) Deletions in the prion protein gene are not associated with CJD. Hum Mol Genet 2:541\u2013544","journal-title":"Hum Mol Genet"},{"key":"150_CR19","first-page":"888","volume":"58","author":"Petraroli","year":"1996","unstructured":"Petraroli R, Pocchiari M (1996) Codon 219 polymorphism of PRNP in healthy Caucasians and Creutzfeldt\u2013Jakob disease patients. Am J Hum Genet 58:888\u2013889","journal-title":"Am J Hum Genet"},{"key":"150_CR20","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1126\/science.1675487","volume":"252","author":"Prusiner","year":"1991","unstructured":"Prusiner SB (1991) Molecular biology of prion diseases. Science 252:1515\u20131522","journal-title":"Science"},{"key":"150_CR21","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1007\/BF00201596","volume":"94","author":"Salvatore","year":"1994","unstructured":"Salvatore M, Genuardi M, Petraroli R, Masullo C, D\u2019Alessandro M, Pocchiari M (1994) Polymorphisms of the prion protein gene in Italian patients with Creutzfeldt\u2013Jakob disease. Hum Genet 94:375\u2013379","journal-title":"Hum Genet"},{"key":"150_CR22","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1002\/ana.410430618","volume":"43","author":"Shibuya","year":"1998","unstructured":"Shibuya S, Higuchi J, Shin RW, Tateishi J, Kitamoto T (1998) Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt\u2013Jakob disease. Ann Neurol 43:826\u2013828","journal-title":"Ann Neurol"},{"key":"150_CR23","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1007\/s004010050998","volume":"97","author":"Zimmermann","year":"1999","unstructured":"Zimmermann K, Turecek PL, Schwarz HP (1999) Genotyping of the prion protein gene at codon 129. Acta Neuropathol 97:355\u2013358","journal-title":"Acta Neuropathol"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/jhg200453.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200453","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/jhg200453.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T19:33:25Z","timestamp":1638387205000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/jhg200453"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,18]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,6]]}},"alternative-id":["150"],"URL":"https:\/\/doi.org\/10.1007\/s10038-004-0150-7","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,18]]}}}